Canonical Allele Identifier: CA375685191
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255949C>G , CM000671.2:g.133255949C>G GRCh38
NC_000009.11:g.136131336C>G , CM000671.1:g.136131336C>G GRCh37
NC_000009.10:g.135121157C>G NCBI36
NG_006669.1:g.21719G>C
NG_006669.2:g.24267G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.811G>C
ENST00000647353.1:n.54-4797G>C
ENST00000679909.1:c.28+19213G>C ENSP00000506089.1:n.28+19213G>C
ENST00000453660.3:n.793G>C
ENST00000538324.2:c.779G>C ENSP00000483018.1:p.Gly260Ala
ENST00000611156.4:c.779G>C ENSP00000483265.1:p.Gly260Ala
NM_020469.2:c.782G>C NP_065202.2:p.Gly261Ala
NM_020469.3:c.782G>C NP_065202.2:p.Gly261Ala