Canonical Allele Identifier: CA375686566

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136132815T>C (hg19) ; chr9:g.133257428T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257428T>C , CM000671.2:g.133257428T>C	GRCh38
NC_000009.11:g.136132815T>C , CM000671.1:g.136132815T>C	GRCh37
NC_000009.10:g.135122636T>C	NCBI36
NG_006669.1:g.20240A>G
NG_006669.2:g.22788A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.384A>G
ENST00000647353.1:n.54-6276A>G
ENST00000651471.1:n.329+614A>G
ENST00000679909.1:c.28+17734A>G	ENSP00000506089.1:n.28+17734A>G
ENST00000453660.3:n.366A>G
ENST00000538324.2:c.352A>G	ENSP00000483018.1:p.Thr118Ala
ENST00000611156.4:c.352A>G	ENSP00000483265.1:p.Thr118Ala
NM_020469.2:c.355A>G	NP_065202.2:p.Thr119Ala
NM_020469.3:c.355A>G	NP_065202.2:p.Thr119Ala