Canonical Allele Identifier: CA375686535

Gene: ABO

Linked Data

• dbSNP Id: rs2118947755
• MyVariant Identifiers: chr9:g.136132800T>C (hg19) ; chr9:g.133257413T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257413T>C , CM000671.2:g.133257413T>C	GRCh38
NC_000009.11:g.136132800T>C , CM000671.1:g.136132800T>C	GRCh37
NC_000009.10:g.135122621T>C	NCBI36
NG_006669.1:g.20255A>G
NG_006669.2:g.22803A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.399A>G
ENST00000647353.1:n.54-6261A>G
ENST00000651471.1:n.329+629A>G
ENST00000679909.1:c.28+17749A>G	ENSP00000506089.1:n.28+17749A>G
ENST00000453660.3:n.381A>G
ENST00000538324.2:c.367A>G	ENSP00000483018.1:p.Lys123Glu
ENST00000611156.4:c.367A>G	ENSP00000483265.1:p.Lys123Glu
NM_020469.2:c.370A>G	NP_065202.2:p.Lys124Glu
NM_020469.3:c.370A>G	NP_065202.2:p.Lys124Glu