Canonical Allele Identifier: CA467852967
Gene: ABO HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.136131200C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255813C>T , CM000671.2:g.133255813C>T GRCh38
NC_000009.11:g.136131200C>T , CM000671.1:g.136131200C>T GRCh37
NC_000009.10:g.135121021C>T NCBI36
NG_006669.1:g.21855G>A
NG_006669.2:g.24403G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.947G>A
ENST00000647353.1:n.54-4661G>A
ENST00000679909.1:c.28+19349G>A ENSP00000506089.1:n.28+19349G>A
ENST00000453660.3:n.929G>A
ENST00000538324.2:c.915G>A ENSP00000483018.1:p.Leu305=
ENST00000611156.4:c.915G>A ENSP00000483265.1:p.Leu305=
NM_020469.2:c.918G>A NP_065202.2:p.Leu306=
NM_020469.3:c.918G>A NP_065202.2:p.Leu306=