Canonical Allele Identifier: CA375685112

Gene: ABO

Linked Data

• gnomAD v4: 9-133255938-A-C
• MyVariant Identifiers: chr9:g.136131325A>C (hg19) ; chr9:g.133255938A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255938A>C , CM000671.2:g.133255938A>C	GRCh38
NC_000009.11:g.136131325A>C , CM000671.1:g.136131325A>C	GRCh37
NC_000009.10:g.135121146A>C	NCBI36
NG_006669.1:g.21730T>G
NG_006669.2:g.24278T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.822T>G
ENST00000647353.1:n.54-4786T>G
ENST00000679909.1:c.28+19224T>G	ENSP00000506089.1:n.28+19224T>G
ENST00000453660.3:n.804T>G
ENST00000538324.2:c.790T>G	ENSP00000483018.1:p.Tyr264Asp
ENST00000611156.4:c.790T>G	ENSP00000483265.1:p.Tyr264Asp
NM_020469.2:c.793T>G	NP_065202.2:p.Tyr265Asp
NM_020469.3:c.793T>G	NP_065202.2:p.Tyr265Asp