Canonical Allele Identifier: CA375686354

Gene: ABO

Linked Data

• dbSNP Id: rs1282098691
• gnomAD v2: 9-136131675-T-C
• MyVariant Identifiers: chr9:g.136131675T>C (hg19) ; chr9:g.133256288T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256288T>C , CM000671.2:g.133256288T>C	GRCh38
NC_000009.11:g.136131675T>C , CM000671.1:g.136131675T>C	GRCh37
NC_000009.10:g.135121496T>C	NCBI36
NG_006669.1:g.21380A>G
NG_006669.2:g.23928A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.472A>G
ENST00000647353.1:n.54-5136A>G
ENST00000651471.1:n.398A>G
ENST00000679909.1:c.28+18874A>G	ENSP00000506089.1:n.28+18874A>G
ENST00000453660.3:n.454A>G
ENST00000538324.2:c.440A>G	ENSP00000483018.1:p.His147Arg
ENST00000611156.4:c.440A>G	ENSP00000483265.1:p.His147Arg
NM_020469.2:c.443A>G	NP_065202.2:p.His148Arg
NM_020469.3:c.443A>G	NP_065202.2:p.His148Arg