Canonical Allele Identifier: CA375683242

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131075T>C (hg19) ; chr9:g.133255688T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255688T>C , CM000671.2:g.133255688T>C	GRCh38
NC_000009.11:g.136131075T>C , CM000671.1:g.136131075T>C	GRCh37
NC_000009.10:g.135120896T>C	NCBI36
NG_006669.1:g.21980A>G
NG_006669.2:g.24528A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1072A>G
ENST00000647353.1:n.54-4536A>G
ENST00000679909.1:c.28+19474A>G	ENSP00000506089.1:n.28+19474A>G
ENST00000453660.3:n.1054A>G
ENST00000538324.2:c.1040A>G	ENSP00000483018.1:p.His347Arg
ENST00000611156.4:c.1040A>G	ENSP00000483265.1:p.His347Arg
NM_020469.2:c.1043A>G	NP_065202.2:p.His348Arg
NM_020469.3:c.1043A>G	NP_065202.2:p.His348Arg