Canonical Allele Identifier: CA467852957
Gene: ABO HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.136131188C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255801C>G , CM000671.2:g.133255801C>G GRCh38
NC_000009.11:g.136131188C>G , CM000671.1:g.136131188C>G GRCh37
NC_000009.10:g.135121009C>G NCBI36
NG_006669.1:g.21867G>C
NG_006669.2:g.24415G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.959G>C
ENST00000647353.1:n.54-4649G>C
ENST00000679909.1:c.28+19361G>C ENSP00000506089.1:n.28+19361G>C
ENST00000453660.3:n.941G>C
ENST00000538324.2:c.927G>C ENSP00000483018.1:p.Leu309=
ENST00000611156.4:c.927G>C ENSP00000483265.1:p.Leu309=
NM_020469.2:c.930G>C NP_065202.2:p.Leu310=
NM_020469.3:c.930G>C NP_065202.2:p.Leu310=