Canonical Allele Identifier: CA375686736
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257508G>A , CM000671.2:g.133257508G>A GRCh38
NC_000009.11:g.136132895G>A , CM000671.1:g.136132895G>A GRCh37
NC_000009.10:g.135122716G>A NCBI36
NG_006669.1:g.20160C>T
NG_006669.2:g.22708C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.304C>T
ENST00000647353.1:n.54-6356C>T
ENST00000651471.1:n.329+534C>T
ENST00000679909.1:c.28+17654C>T ENSP00000506089.1:n.28+17654C>T
ENST00000453660.3:n.286C>T
ENST00000538324.2:c.272C>T ENSP00000483018.1:p.Ala91Val
ENST00000611156.4:c.272C>T ENSP00000483265.1:p.Ala91Val
NM_020469.2:c.275C>T NP_065202.2:p.Ala92Val
NM_020469.3:c.275C>T NP_065202.2:p.Ala92Val