Canonical Allele Identifier: CA375685085

Gene: ABO

Linked Data

• dbSNP Id: rs1241811797
• gnomAD v3: 9-133255931-C-G
• gnomAD v4: 9-133255931-C-G
• MyVariant Identifiers: chr9:g.136131318C>G (hg19) ; chr9:g.133255931C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255931C>G , CM000671.2:g.133255931C>G	GRCh38
NC_000009.11:g.136131318C>G , CM000671.1:g.136131318C>G	GRCh37
NC_000009.10:g.135121139C>G	NCBI36
NG_006669.1:g.21737G>C
NG_006669.2:g.24285G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.829G>C
ENST00000647353.1:n.54-4779G>C
ENST00000679909.1:c.28+19231G>C	ENSP00000506089.1:n.28+19231G>C
ENST00000453660.3:n.811G>C
ENST00000538324.2:c.797G>C	ENSP00000483018.1:p.Gly266Ala
ENST00000611156.4:c.797G>C	ENSP00000483265.1:p.Gly266Ala
NM_020469.2:c.800G>C	NP_065202.2:p.Gly267Ala
NM_020469.3:c.800G>C	NP_065202.2:p.Gly267Ala