Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA375686151

Gene: ABO HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.136131572C>A (hg19) chr9:g.133256185C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256185C>A , CM000671.2:g.133256185C>A	GRCh38
NC_000009.11:g.136131572C>A , CM000671.1:g.136131572C>A	GRCh37
NC_000009.10:g.135121393C>A	NCBI36
NG_006669.1:g.21483G>T
NG_006669.2:g.24031G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.575G>T
ENST00000647353.1:n.54-5033G>T
ENST00000651471.1:n.501G>T
ENST00000679909.1:c.28+18977G>T	ENSP00000506089.1:n.28+18977G>T
ENST00000453660.3:n.557G>T
ENST00000538324.2:c.543G>T	ENSP00000483018.1:p.Gln181His
ENST00000611156.4:c.543G>T	ENSP00000483265.1:p.Gln181His
NM_020469.2:c.546G>T	NP_065202.2:p.Gln182His
NM_020469.3:c.546G>T	NP_065202.2:p.Gln182His

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