Canonical Allele Identifier: CA375683062
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255667C>G , CM000671.2:g.133255667C>G GRCh38
NC_000009.11:g.136131054C>G , CM000671.1:g.136131054C>G GRCh37
NC_000009.10:g.135120875C>G NCBI36
NG_006669.1:g.22001G>C
NG_006669.2:g.24549G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.1093G>C
ENST00000647353.1:n.54-4515G>C
ENST00000679909.1:c.28+19495G>C ENSP00000506089.1:n.28+19495G>C
ENST00000453660.3:n.1075G>C
ENST00000538324.2:c.1057G>C ENSP00000483018.1:p.Glu353Gln
ENST00000611156.4:c.1061G>C ENSP00000483265.1:p.Ter354Ser
NM_020469.2:c.1064G>C NP_065202.2:p.Ter355Ser
NM_020469.3:c.1064G>C NP_065202.2:p.Ter355Ser