Canonical Allele Identifier: CA375686443

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131714T>G (hg19) ; chr9:g.133256327T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256327T>G , CM000671.2:g.133256327T>G	GRCh38
NC_000009.11:g.136131714T>G , CM000671.1:g.136131714T>G	GRCh37
NC_000009.10:g.135121535T>G	NCBI36
NG_006669.1:g.21341A>C
NG_006669.2:g.23889A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.433A>C
ENST00000647353.1:n.54-5175A>C
ENST00000651471.1:n.359A>C
ENST00000679909.1:c.28+18835A>C	ENSP00000506089.1:n.28+18835A>C
ENST00000453660.3:n.415A>C
ENST00000538324.2:c.401A>C	ENSP00000483018.1:p.Glu134Ala
ENST00000611156.4:c.401A>C	ENSP00000483265.1:p.Glu134Ala
NM_020469.2:c.404A>C	NP_065202.2:p.Glu135Ala
NM_020469.3:c.404A>C	NP_065202.2:p.Glu135Ala