Canonical Allele Identifier: CA375685520
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256033T>A , CM000671.2:g.133256033T>A GRCh38
NC_000009.11:g.136131420T>A , CM000671.1:g.136131420T>A GRCh37
NC_000009.10:g.135121241T>A NCBI36
NG_006669.1:g.21635A>T
NG_006669.2:g.24183A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.727A>T
ENST00000647353.1:n.54-4881A>T
ENST00000679909.1:c.28+19129A>T ENSP00000506089.1:n.28+19129A>T
ENST00000453660.3:n.709A>T
ENST00000538324.2:c.695A>T ENSP00000483018.1:p.His232Leu
ENST00000611156.4:c.695A>T ENSP00000483265.1:p.His232Leu
NM_020469.2:c.698A>T NP_065202.2:p.His233Leu
NM_020469.3:c.698A>T NP_065202.2:p.His233Leu