Canonical Allele Identifier: CA375685789
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256087T>G , CM000671.2:g.133256087T>G GRCh38
NC_000009.11:g.136131474T>G , CM000671.1:g.136131474T>G GRCh37
NC_000009.10:g.135121295T>G NCBI36
NG_006669.1:g.21581A>C
NG_006669.2:g.24129A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.673A>C
ENST00000647353.1:n.54-4935A>C
ENST00000679909.1:c.28+19075A>C ENSP00000506089.1:n.28+19075A>C
ENST00000453660.3:n.655A>C
ENST00000538324.2:c.641A>C ENSP00000483018.1:p.Glu214Ala
ENST00000611156.4:c.641A>C ENSP00000483265.1:p.Glu214Ala
NM_020469.2:c.644A>C NP_065202.2:p.Glu215Ala
NM_020469.3:c.644A>C NP_065202.2:p.Glu215Ala