Allele profile of the MolecularDefinition resource.

Genotype profile of Molecular Definition

Haplotype profile of Molecular Definition Resource

Sequence profile of Molecular Definition

Variation profile of the MolecularDefinition resource.

Single-letter symbols for amino acids, including ambiguous symbols.

Single-letter unambiguous symbols for the 20 common amino acids.

Three-letter symbols for amino acids, including ambiguous symbols.

Three-letter unambiguous symbols for the 20 common amino acids.

Coordinate origin of how the start of the sequence is denoted.

Molecular Definition Encodings terms that describe various encoding schemas.

Molecular Definition Focus terms that describe various representation elements.

Molecule type terms that describe various genomic molucles, e.g., DNA or RNA.

Normalization method of genomic sequence, e.g., left or right shift.

Single-letter ambiguous symbols for DNA residues.

Single-letter unambiguous symbols for DNA residues.

Single-letter unambiguous symbols for DNA residues, including N for any nucleotide.

Single-letter unambiguous symbols for RNA residues.

Strand orientation terms of various molecular sequences.

Topology of how the genomic molecule are structured toplologically.

Single-letter and three-letter symbols for amino acids, including unambiguous and ambiguous symbols.

Reference points for coordinate counting in molecular sequences

CodeSystem listing the different encodings for nucleotides and amino acids.

Molecular Definition Focus terms that describe various representation elements.

Types of molecular sequences including DNA, RNA, and amino acids

Methods for normalizing sequence variants

Single-letter symbols for DNA residues, including unambiguous, ambiguous, and N symbols.

Single-letter unambiguous symbols for RNA residues.

Orientation of molecular sequences, indicating directionality for nucleotides (5' to 3' or 3' to 5') or amino acids (N to C terminus)

Structural arrangement of molecular sequences or modifications

Example of Allele profile including slices for CYP2C19 position 1016 while leveraging contained resources

A simple Allele example showing a G at position 1016 on NM_000769.4, applicable to both CYP2C191.002 and CYP2C193.002

A simple Allele example showing CYP2C19*3.002:c.661A

A simple Allele example showing CYP2C19*1.002:c.661G

A simple Allele example showing CYP2C19*1.002:c.661G

An Allele example representing a part of HLA00001.1:c.[121A])

An Allele example representing a part of HLA00001.1:c.[121C])

An Allele example representing a part of HLA00001.1:c.[123C])

An Allele example representing a part of HLA00001.1:c.[123T])

An Allele example representing a part of HLA00001.1:c.[126A])

An Allele example representing a part of HLA00001.1:c.[126G])

An Allele example representing a part of HLA00001.1:c.[144A])

An Allele example representing a part of HLA00001.1:c.[144A])

An Allele example representing a part of HLA00001.1:c.[144C])

An Allele example representing a part of HLA00001.1:c.[98C])

An Allele example representing a part of HLA00001.1:c.[98T])

A sequence represented as a code using an accession number

Homo sapiens MHC class I antigen (HLA-B) gene

CYP2C19 gene sequence

CYP2C19 gene sequence

CYP2C19 gene sequence

A sample Document Reference instance representing HLA00001.

A sample Document Reference instance representing Homo sapiens isolate 7 BRCA1 (BRCA1) gene, exon 10 and partial cds.

Chr7, GRCh38.p14 sequence

Chr10, GRCh37.p13 sequence

A sample Document Reference instance representing Homo sapiens cytochrome P450 family 2 subfamily C member 19 (CYP2C19), RefSeqGene (LRG_584) on chromosome 10.

A sample Document Reference instance representing Homo sapiens mutS homolog 2 (MSH2), transcript variant 1, mRNA.

(CYP2C19), mRNA

A sample Document Reference instance representing Homo sapiens FMRP translational regulator 1 (FMR1), transcript variant ISO1, mRNA.

Example of Genotype profile representing CYP2C191.002 and CYP2C193.00 haplotypes

Example of Genotype profile representing HLA-A01:01:01:01 and HLA-A01:02:01:01 haplotypes

Example of Haplotype profile representing CYP2C191.002 as CYP2C191.002:c.[661G; 1016G]

Example of Haplotype profile representing CYP2C193.002 as CYP2C193.002:c.[661A; 1016G]

Example of Haplotype profile representing HLA-A*01:01:01:01 HLA00001.1:c.[98T; 121C; 123C; 126G; 144C]

Example of Haplotype profile representing HLA-A*01:02:01:01 as HLA00001.1:c.[98C; 121A; 123T; 126A; 144A]

Simple Sequence example with IUPAC encoding

Simple Sequence example with IUPAC encoding, A

Simple Sequence example with IUPAC encoding, C

Simple Sequence example of GGC sequence

A sequence represented as an attachement

A sequence represented as an attachement

A sequence represented as a concatenation of sequence instances

A downstream region extracted from a sequence

A gene region extracted from a sequence

An upstream region extracted from a sequence

Starting Sequence Resource: (CYP2C19), mRNA, NM_000769.4

A sequence example composed of 20x repeats of CGG sequence edited using contained resources

A sequence example composed of 20x repeats of CGG sequence edited using referenced resources

A sequence example composed of 20x repeats of CGG sequence

A sequence represented as a resolvable URL of HLA00001

A sequence represented as a resolvable URL, NC_000007.14 Homo sapiens chromosome 7, GRCh38.p14 Primary Assembly

A sequence represented as a resolvable URL

Example of Variation profile of CYP2C19 at Position 1015 as SPDI

Example of Variation profile of CYP2C19 at Position 1015 as SPDI

Example of Variation profile of tri-allelic variant in ABCB1

Example of Variation profile of tri-allelic variant in ABCB1