Canonical Allele Identifier: CA473516771
Gene: OTOG HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17574988C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553441C>G , CM000673.2:g.17553441C>G GRCh38
NC_000011.9:g.17574988C>G , CM000673.1:g.17574988C>G GRCh37
NC_000011.8:g.17531564C>G NCBI36
NG_033191.1:g.11069C>G
NG_033191.2:g.11069C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.498C>G ENSP00000382323.2:p.Leu166=
ENST00000399397.6:c.462C>G MANE Select ENSP00000382329.2:p.Leu154=
ENST00000399391.6:c.498C>G ENSP00000382323.2:p.Leu166=
ENST00000399397.5:c.462C>G ENSP00000382329.2:p.Leu154=
ENST00000428619.1:c.279C>G ENSP00000399057.2:p.Leu93=
ENST00000498332.5:n.368C>G
NM_001277269.1:c.498C>G NP_001264198.1:p.Leu166=
NM_001292063.1:c.462C>G NP_001278992.1:p.Leu154=
NM_001277269.2:c.498C>G NP_001264198.1:p.Leu166=
NM_001292063.2:c.462C>G MANE Select NP_001278992.1:p.Leu154=