Canonical Allele Identifier: CA375685217
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255955T>A , CM000671.2:g.133255955T>A GRCh38
NC_000009.11:g.136131342T>A , CM000671.1:g.136131342T>A GRCh37
NC_000009.10:g.135121163T>A NCBI36
NG_006669.1:g.21713A>T
NG_006669.2:g.24261A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.805A>T
ENST00000647353.1:n.54-4803A>T
ENST00000679909.1:c.28+19207A>T ENSP00000506089.1:n.28+19207A>T
ENST00000453660.3:n.787A>T
ENST00000538324.2:c.773A>T ENSP00000483018.1:p.Asp258Val
ENST00000611156.4:c.773A>T ENSP00000483265.1:p.Asp258Val
NM_020469.2:c.776A>T NP_065202.2:p.Asp259Val
NM_020469.3:c.776A>T NP_065202.2:p.Asp259Val