Canonical Allele Identifier: CA467783709
Gene: ABO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257524C>A , CM000671.2:g.133257524C>A GRCh38
NC_000009.11:g.136132911C>A , CM000671.1:g.136132911C>A GRCh37
NC_000009.10:g.135122732C>A NCBI36
NG_006669.1:g.20143G>T
NG_006669.2:g.22691G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.288G>T
ENST00000647353.1:n.54-6372G>T
ENST00000651471.1:n.329+518G>T
ENST00000679909.1:c.28+17638G>T ENSP00000506089.1:n.28+17638G>T
ENST00000453660.3:n.270G>T
ENST00000538324.2:c.258G>T ENSP00000483018.1:p.Val86=
ENST00000611156.4:c.258G>T ENSP00000483265.1:p.Val86=
NM_020469.2:c.258G>T NP_065202.2:p.Val86=
NM_020469.3:c.258G>T NP_065202.2:p.Val86=