Canonical Allele Identifier: CA375685200

Gene: ABO

Linked Data

• dbSNP Id: rs1327329378
• gnomAD v2: 9-136131337-C-T
• gnomAD v4: 9-133255950-C-T
• MyVariant Identifiers: chr9:g.136131337C>T (hg19) ; chr9:g.133255950C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255950C>T , CM000671.2:g.133255950C>T	GRCh38
NC_000009.11:g.136131337C>T , CM000671.1:g.136131337C>T	GRCh37
NC_000009.10:g.135121158C>T	NCBI36
NG_006669.1:g.21718G>A
NG_006669.2:g.24266G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.810G>A
ENST00000647353.1:n.54-4798G>A
ENST00000679909.1:c.28+19212G>A	ENSP00000506089.1:n.28+19212G>A
ENST00000453660.3:n.792G>A
ENST00000538324.2:c.778G>A	ENSP00000483018.1:p.Gly260Ser
ENST00000611156.4:c.778G>A	ENSP00000483265.1:p.Gly260Ser
NM_020469.2:c.781G>A	NP_065202.2:p.Gly261Ser
NM_020469.3:c.781G>A	NP_065202.2:p.Gly261Ser