Canonical Allele Identifier: CA375684901
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255904T>A , CM000671.2:g.133255904T>A GRCh38
NC_000009.11:g.136131291T>A , CM000671.1:g.136131291T>A GRCh37
NC_000009.10:g.135121112T>A NCBI36
NG_006669.1:g.21764A>T
NG_006669.2:g.24312A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.856A>T
ENST00000647353.1:n.54-4752A>T
ENST00000679909.1:c.28+19258A>T ENSP00000506089.1:n.28+19258A>T
ENST00000453660.3:n.838A>T
ENST00000538324.2:c.824A>T ENSP00000483018.1:p.Glu275Val
ENST00000611156.4:c.824A>T ENSP00000483265.1:p.Glu275Val
NM_020469.2:c.827A>T NP_065202.2:p.Glu276Val
NM_020469.3:c.827A>T NP_065202.2:p.Glu276Val