Canonical Allele Identifier: CA375685788

Gene: ABO

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.673A>G
ENST00000647353.1:n.54-4935A>G
ENST00000679909.1:c.28+19075A>G	ENSP00000506089.1:n.28+19075A>G
ENST00000453660.3:n.655A>G
ENST00000538324.2:c.641A>G	ENSP00000483018.1:p.Glu214Gly
ENST00000611156.4:c.641A>G	ENSP00000483265.1:p.Glu214Gly
NM_020469.2:c.644A>G	NP_065202.2:p.Glu215Gly
NM_020469.3:c.644A>G	NP_065202.2:p.Glu215Gly