Canonical Allele Identifier: CA375685196

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131337C>A (hg19) ; chr9:g.133255950C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.810G>T
ENST00000647353.1:n.54-4798G>T
ENST00000679909.1:c.28+19212G>T	ENSP00000506089.1:n.28+19212G>T
ENST00000453660.3:n.792G>T
ENST00000538324.2:c.778G>T	ENSP00000483018.1:p.Gly260Cys
ENST00000611156.4:c.778G>T	ENSP00000483265.1:p.Gly260Cys
NM_020469.2:c.781G>T	NP_065202.2:p.Gly261Cys
NM_020469.3:c.781G>T	NP_065202.2:p.Gly261Cys