Canonical Allele Identifier: CA375685808
Gene: ABO HGNC NCBI

Linked Data

dbSNP Id: rs1285446079

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256090A>G , CM000671.2:g.133256090A>G GRCh38
NC_000009.11:g.136131477A>G , CM000671.1:g.136131477A>G GRCh37
NC_000009.10:g.135121298A>G NCBI36
NG_006669.1:g.21578T>C
NG_006669.2:g.24126T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.670T>C
ENST00000647353.1:n.54-4938T>C
ENST00000679909.1:c.28+19072T>C ENSP00000506089.1:n.28+19072T>C
ENST00000453660.3:n.652T>C
ENST00000538324.2:c.638T>C ENSP00000483018.1:p.Met213Thr
ENST00000611156.4:c.638T>C ENSP00000483265.1:p.Met213Thr
NM_020469.2:c.641T>C NP_065202.2:p.Met214Thr
NM_020469.3:c.641T>C NP_065202.2:p.Met214Thr