Canonical Allele Identifier: CA375686050

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131528T>G (hg19) ; chr9:g.133256141T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256141T>G , CM000671.2:g.133256141T>G	GRCh38
NC_000009.11:g.136131528T>G , CM000671.1:g.136131528T>G	GRCh37
NC_000009.10:g.135121349T>G	NCBI36
NG_006669.1:g.21527A>C
NG_006669.2:g.24075A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.619A>C
ENST00000647353.1:n.54-4989A>C
ENST00000651471.1:n.545A>C
ENST00000679909.1:c.28+19021A>C	ENSP00000506089.1:n.28+19021A>C
ENST00000453660.3:n.601A>C
ENST00000538324.2:c.587A>C	ENSP00000483018.1:p.Glu196Ala
ENST00000611156.4:c.587A>C	ENSP00000483265.1:p.Glu196Ala
NM_020469.2:c.590A>C	NP_065202.2:p.Glu197Ala
NM_020469.3:c.590A>C	NP_065202.2:p.Glu197Ala