Canonical Allele Identifier: CA375683961
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255788G>T , CM000671.2:g.133255788G>T GRCh38
NC_000009.11:g.136131175G>T , CM000671.1:g.136131175G>T GRCh37
NC_000009.10:g.135120996G>T NCBI36
NG_006669.1:g.21880C>A
NG_006669.2:g.24428C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.972C>A
ENST00000647353.1:n.54-4636C>A
ENST00000679909.1:c.28+19374C>A ENSP00000506089.1:n.28+19374C>A
ENST00000453660.3:n.954C>A
ENST00000538324.2:c.940C>A ENSP00000483018.1:p.Pro314Thr
ENST00000611156.4:c.940C>A ENSP00000483265.1:p.Pro314Thr
NM_020469.2:c.943C>A NP_065202.2:p.Pro315Thr
NM_020469.3:c.943C>A NP_065202.2:p.Pro315Thr