Canonical Allele Identifier: CA375684913
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255906T>G , CM000671.2:g.133255906T>G GRCh38
NC_000009.11:g.136131293T>G , CM000671.1:g.136131293T>G GRCh37
NC_000009.10:g.135121114T>G NCBI36
NG_006669.1:g.21762A>C
NG_006669.2:g.24310A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.854A>C
ENST00000647353.1:n.54-4754A>C
ENST00000679909.1:c.28+19256A>C ENSP00000506089.1:n.28+19256A>C
ENST00000453660.3:n.836A>C
ENST00000538324.2:c.822A>C ENSP00000483018.1:p.Gln274His
ENST00000611156.4:c.822A>C ENSP00000483265.1:p.Gln274His
NM_020469.2:c.825A>C NP_065202.2:p.Gln275His
NM_020469.3:c.825A>C NP_065202.2:p.Gln275His