Canonical Allele Identifier: CA375686639
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257463T>A , CM000671.2:g.133257463T>A GRCh38
NC_000009.11:g.136132850T>A , CM000671.1:g.136132850T>A GRCh37
NC_000009.10:g.135122671T>A NCBI36
NG_006669.1:g.20205A>T
NG_006669.2:g.22753A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.349A>T
ENST00000647353.1:n.54-6311A>T
ENST00000651471.1:n.329+579A>T
ENST00000679909.1:c.28+17699A>T ENSP00000506089.1:n.28+17699A>T
ENST00000453660.3:n.331A>T
ENST00000538324.2:c.317A>T ENSP00000483018.1:p.Glu106Val
ENST00000611156.4:c.317A>T ENSP00000483265.1:p.Glu106Val
NM_020469.2:c.320A>T NP_065202.2:p.Glu107Val
NM_020469.3:c.320A>T NP_065202.2:p.Glu107Val