Canonical Allele Identifier: CA375685193

Gene: ABO

Linked Data

• gnomAD v4: 9-133255949-C-T
• MyVariant Identifiers: chr9:g.136131336C>T (hg19) ; chr9:g.133255949C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255949C>T , CM000671.2:g.133255949C>T	GRCh38
NC_000009.11:g.136131336C>T , CM000671.1:g.136131336C>T	GRCh37
NC_000009.10:g.135121157C>T	NCBI36
NG_006669.1:g.21719G>A
NG_006669.2:g.24267G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.811G>A
ENST00000647353.1:n.54-4797G>A
ENST00000679909.1:c.28+19213G>A	ENSP00000506089.1:n.28+19213G>A
ENST00000453660.3:n.793G>A
ENST00000538324.2:c.779G>A	ENSP00000483018.1:p.Gly260Asp
ENST00000611156.4:c.779G>A	ENSP00000483265.1:p.Gly260Asp
NM_020469.2:c.782G>A	NP_065202.2:p.Gly261Asp
NM_020469.3:c.782G>A	NP_065202.2:p.Gly261Asp