Canonical Allele Identifier: CA375683747

Gene: ABO

Linked Data

• dbSNP Id: rs1834561726
• gnomAD v3: 9-133255758-A-G
• gnomAD v4: 9-133255758-A-G
• MyVariant Identifiers: chr9:g.136131145A>G (hg19) ; chr9:g.133255758A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255758A>G , CM000671.2:g.133255758A>G	GRCh38
NC_000009.11:g.136131145A>G , CM000671.1:g.136131145A>G	GRCh37
NC_000009.10:g.135120966A>G	NCBI36
NG_006669.1:g.21910T>C
NG_006669.2:g.24458T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1002T>C
ENST00000647353.1:n.54-4606T>C
ENST00000679909.1:c.28+19404T>C	ENSP00000506089.1:n.28+19404T>C
ENST00000453660.3:n.984T>C
ENST00000538324.2:c.970T>C	ENSP00000483018.1:p.Trp324Arg
ENST00000611156.4:c.970T>C	ENSP00000483265.1:p.Trp324Arg
NM_020469.2:c.973T>C	NP_065202.2:p.Trp325Arg
NM_020469.3:c.973T>C	NP_065202.2:p.Trp325Arg