Canonical Allele Identifier: CA375686790

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136132921T>G (hg19) ; chr9:g.133257534T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257534T>G , CM000671.2:g.133257534T>G	GRCh38
NC_000009.11:g.136132921T>G , CM000671.1:g.136132921T>G	GRCh37
NC_000009.10:g.135122742T>G	NCBI36
NG_006669.1:g.20133A>C
NG_006669.2:g.22681A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.278A>C
ENST00000647353.1:n.54-6382A>C
ENST00000651471.1:n.329+508A>C
ENST00000679909.1:c.28+17628A>C	ENSP00000506089.1:n.28+17628A>C
ENST00000453660.3:n.260A>C
ENST00000538324.2:c.248A>C	ENSP00000483018.1:p.Asp83Ala
ENST00000611156.4:c.248A>C	ENSP00000483265.1:p.Asp83Ala
NM_020469.2:c.248A>C	NP_065202.2:p.Asp83Ala
NM_020469.3:c.248A>C	NP_065202.2:p.Asp83Ala