Canonical Allele Identifier: CA375686501
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256355A>G , CM000671.2:g.133256355A>G GRCh38
NC_000009.11:g.136131742A>G , CM000671.1:g.136131742A>G GRCh37
NC_000009.10:g.135121563A>G NCBI36
NG_006669.1:g.21313T>C
NG_006669.2:g.23861T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.405T>C
ENST00000647353.1:n.54-5203T>C
ENST00000651471.1:n.331T>C
ENST00000679909.1:c.28+18807T>C ENSP00000506089.1:n.28+18807T>C
ENST00000453660.3:n.387T>C
ENST00000538324.2:c.373T>C ENSP00000483018.1:p.Tyr125His
ENST00000611156.4:c.373T>C ENSP00000483265.1:p.Tyr125His
NM_020469.2:c.376T>C NP_065202.2:p.Tyr126His
NM_020469.3:c.376T>C NP_065202.2:p.Tyr126His