Canonical Allele Identifier: CA467852827
Gene: ABO HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.136131149G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255762G>A , CM000671.2:g.133255762G>A GRCh38
NC_000009.11:g.136131149G>A , CM000671.1:g.136131149G>A GRCh37
NC_000009.10:g.135120970G>A NCBI36
NG_006669.1:g.21906C>T
NG_006669.2:g.24454C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.998C>T
ENST00000647353.1:n.54-4610C>T
ENST00000679909.1:c.28+19400C>T ENSP00000506089.1:n.28+19400C>T
ENST00000453660.3:n.980C>T
ENST00000538324.2:c.966C>T ENSP00000483018.1:p.Tyr322=
ENST00000611156.4:c.966C>T ENSP00000483265.1:p.Tyr322=
NM_020469.2:c.969C>T NP_065202.2:p.Tyr323=
NM_020469.3:c.969C>T NP_065202.2:p.Tyr323=