Canonical Allele Identifier: CA375684729
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255875G>A , CM000671.2:g.133255875G>A GRCh38
NC_000009.11:g.136131262G>A , CM000671.1:g.136131262G>A GRCh37
NC_000009.10:g.135121083G>A NCBI36
NG_006669.1:g.21793C>T
NG_006669.2:g.24341C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.885C>T
ENST00000647353.1:n.54-4723C>T
ENST00000679909.1:c.28+19287C>T ENSP00000506089.1:n.28+19287C>T
ENST00000453660.3:n.867C>T
ENST00000538324.2:c.853C>T ENSP00000483018.1:p.Gln285Ter
ENST00000611156.4:c.853C>T ENSP00000483265.1:p.Gln285Ter
NM_020469.2:c.856C>T NP_065202.2:p.Gln286Ter
NM_020469.3:c.856C>T NP_065202.2:p.Gln286Ter