Canonical Allele Identifier: CA375683378
Gene: ABO HGNC NCBI

Linked Data

dbSNP Id: rs1211513991

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255703G>A , CM000671.2:g.133255703G>A GRCh38
NC_000009.11:g.136131090G>A , CM000671.1:g.136131090G>A GRCh37
NC_000009.10:g.135120911G>A NCBI36
NG_006669.1:g.21965C>T
NG_006669.2:g.24513C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.1057C>T
ENST00000647353.1:n.54-4551C>T
ENST00000679909.1:c.28+19459C>T ENSP00000506089.1:n.28+19459C>T
ENST00000453660.3:n.1039C>T
ENST00000538324.2:c.1025C>T ENSP00000483018.1:p.Ala342Val
ENST00000611156.4:c.1025C>T ENSP00000483265.1:p.Ala342Val
NM_020469.2:c.1028C>T NP_065202.2:p.Ala343Val
NM_020469.3:c.1028C>T NP_065202.2:p.Ala343Val