Canonical Allele Identifier: CA375683541
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255722T>A , CM000671.2:g.133255722T>A GRCh38
NC_000009.11:g.136131109T>A , CM000671.1:g.136131109T>A GRCh37
NC_000009.10:g.135120930T>A NCBI36
NG_006669.1:g.21946A>T
NG_006669.2:g.24494A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.1038A>T
ENST00000647353.1:n.54-4570A>T
ENST00000679909.1:c.28+19440A>T ENSP00000506089.1:n.28+19440A>T
ENST00000453660.3:n.1020A>T
ENST00000538324.2:c.1006A>T ENSP00000483018.1:p.Arg336Trp
ENST00000611156.4:c.1006A>T ENSP00000483265.1:p.Arg336Trp
NM_020469.2:c.1009A>T NP_065202.2:p.Arg337Trp
NM_020469.3:c.1009A>T NP_065202.2:p.Arg337Trp