Canonical Allele Identifier: CA375683442

Gene: ABO

Linked Data

• dbSNP Id: rs1588636853
• MyVariant Identifiers: chr9:g.136131097A>C (hg19) ; chr9:g.133255710A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255710A>C , CM000671.2:g.133255710A>C	GRCh38
NC_000009.11:g.136131097A>C , CM000671.1:g.136131097A>C	GRCh37
NC_000009.10:g.135120918A>C	NCBI36
NG_006669.1:g.21958T>G
NG_006669.2:g.24506T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.1050T>G
ENST00000647353.1:n.54-4558T>G
ENST00000679909.1:c.28+19452T>G	ENSP00000506089.1:n.28+19452T>G
ENST00000453660.3:n.1032T>G
ENST00000538324.2:c.1018T>G	ENSP00000483018.1:p.Phe340Val
ENST00000611156.4:c.1018T>G	ENSP00000483265.1:p.Phe340Val
NM_020469.2:c.1021T>G	NP_065202.2:p.Phe341Val
NM_020469.3:c.1021T>G	NP_065202.2:p.Phe341Val