Canonical Allele Identifier: CA375683458
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255712C>A , CM000671.2:g.133255712C>A GRCh38
NC_000009.11:g.136131099C>A , CM000671.1:g.136131099C>A GRCh37
NC_000009.10:g.135120920C>A NCBI36
NG_006669.1:g.21956G>T
NG_006669.2:g.24504G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.1048G>T
ENST00000647353.1:n.54-4560G>T
ENST00000679909.1:c.28+19450G>T ENSP00000506089.1:n.28+19450G>T
ENST00000453660.3:n.1030G>T
ENST00000538324.2:c.1016G>T ENSP00000483018.1:p.Arg339Met
ENST00000611156.4:c.1016G>T ENSP00000483265.1:p.Arg339Met
NM_020469.2:c.1019G>T NP_065202.2:p.Arg340Met
NM_020469.3:c.1019G>T NP_065202.2:p.Arg340Met