Canonical Allele Identifier: CA375686613

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136132838A>C (hg19) ; chr9:g.133257451A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257451A>C , CM000671.2:g.133257451A>C	GRCh38
NC_000009.11:g.136132838A>C , CM000671.1:g.136132838A>C	GRCh37
NC_000009.10:g.135122659A>C	NCBI36
NG_006669.1:g.20217T>G
NG_006669.2:g.22765T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.361T>G
ENST00000647353.1:n.54-6299T>G
ENST00000651471.1:n.329+591T>G
ENST00000679909.1:c.28+17711T>G	ENSP00000506089.1:n.28+17711T>G
ENST00000453660.3:n.343T>G
ENST00000538324.2:c.329T>G	ENSP00000483018.1:p.Leu110Arg
ENST00000611156.4:c.329T>G	ENSP00000483265.1:p.Leu110Arg
NM_020469.2:c.332T>G	NP_065202.2:p.Leu111Arg
NM_020469.3:c.332T>G	NP_065202.2:p.Leu111Arg