Canonical Allele Identifier: CA200765322

Gene: ABO

Linked Data

• dbSNP Id: rs1041387558
• gnomAD v2: 9-136131372-C-T
• gnomAD v4: 9-133255985-C-T
• MyVariant Identifiers: chr9:g.136131372C>T (hg19) ; chr9:g.133255985C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255985C>T , CM000671.2:g.133255985C>T	GRCh38
NC_000009.11:g.136131372C>T , CM000671.1:g.136131372C>T	GRCh37
NC_000009.10:g.135121193C>T	NCBI36
NG_006669.1:g.21683G>A
NG_006669.2:g.24231G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.775G>A
ENST00000647353.1:n.54-4833G>A
ENST00000679909.1:c.28+19177G>A	ENSP00000506089.1:n.28+19177G>A
ENST00000453660.3:n.757G>A
ENST00000538324.2:c.743G>A	ENSP00000483018.1:p.Arg248Gln
ENST00000611156.4:c.743G>A	ENSP00000483265.1:p.Arg248Gln
NM_020469.2:c.746G>A	NP_065202.2:p.Arg249Gln
NM_020469.3:c.746G>A	NP_065202.2:p.Arg249Gln