Canonical Allele Identifier: CA473516699
Gene: OTOG HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17574709C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553162C>A , CM000673.2:g.17553162C>A GRCh38
NC_000011.9:g.17574709C>A , CM000673.1:g.17574709C>A GRCh37
NC_000011.8:g.17531285C>A NCBI36
NG_033191.1:g.10790C>A
NG_033191.2:g.10790C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.372C>A ENSP00000382323.2:p.Ala124=
ENST00000399397.6:c.336C>A MANE Select ENSP00000382329.2:p.Ala112=
ENST00000399391.6:c.372C>A ENSP00000382323.2:p.Ala124=
ENST00000399397.5:c.336C>A ENSP00000382329.2:p.Ala112=
ENST00000428619.1:c.153C>A ENSP00000399057.2:p.Ala51=
ENST00000498332.5:n.242C>A
NM_001277269.1:c.372C>A NP_001264198.1:p.Ala124=
NM_001292063.1:c.336C>A NP_001278992.1:p.Ala112=
NM_001277269.2:c.372C>A NP_001264198.1:p.Ala124=
NM_001292063.2:c.336C>A MANE Select NP_001278992.1:p.Ala112=