Canonical Allele Identifier: CA375684871
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255897C>A , CM000671.2:g.133255897C>A GRCh38
NC_000009.11:g.136131284C>A , CM000671.1:g.136131284C>A GRCh37
NC_000009.10:g.135121105C>A NCBI36
NG_006669.1:g.21771G>T
NG_006669.2:g.24319G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.863G>T
ENST00000647353.1:n.54-4745G>T
ENST00000679909.1:c.28+19265G>T ENSP00000506089.1:n.28+19265G>T
ENST00000453660.3:n.845G>T
ENST00000538324.2:c.831G>T ENSP00000483018.1:p.Gln277His
ENST00000611156.4:c.831G>T ENSP00000483265.1:p.Gln277His
NM_020469.2:c.834G>T NP_065202.2:p.Gln278His
NM_020469.3:c.834G>T NP_065202.2:p.Gln278His