Canonical Allele Identifier: CA375685785
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256087T>A , CM000671.2:g.133256087T>A GRCh38
NC_000009.11:g.136131474T>A , CM000671.1:g.136131474T>A GRCh37
NC_000009.10:g.135121295T>A NCBI36
NG_006669.1:g.21581A>T
NG_006669.2:g.24129A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.673A>T
ENST00000647353.1:n.54-4935A>T
ENST00000679909.1:c.28+19075A>T ENSP00000506089.1:n.28+19075A>T
ENST00000453660.3:n.655A>T
ENST00000538324.2:c.641A>T ENSP00000483018.1:p.Glu214Val
ENST00000611156.4:c.641A>T ENSP00000483265.1:p.Glu214Val
NM_020469.2:c.644A>T NP_065202.2:p.Glu215Val
NM_020469.3:c.644A>T NP_065202.2:p.Glu215Val