Canonical Allele Identifier: CA473310839
Gene: OTOG HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17656464G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17634917G>A , CM000673.2:g.17634917G>A GRCh38
NC_000011.9:g.17656464G>A , CM000673.1:g.17656464G>A GRCh37
NC_000011.8:g.17613040G>A NCBI36
NG_033191.1:g.92545G>A
NG_033191.2:g.92545G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7590G>A ENSP00000382323.2:p.Gln2530=
ENST00000399397.6:c.7554G>A MANE Select ENSP00000382329.2:p.Gln2518=
ENST00000342528.2:c.4322-693G>A ENSP00000341666.2:n.4322-693G>A
ENST00000399391.6:c.7590G>A ENSP00000382323.2:p.Gln2530=
ENST00000399397.5:c.7554G>A ENSP00000382329.2:p.Gln2518=
NM_001277269.1:c.7590G>A NP_001264198.1:p.Gln2530=
NM_001292063.1:c.7554G>A NP_001278992.1:p.Gln2518=
NM_001277269.2:c.7590G>A NP_001264198.1:p.Gln2530=
NM_001292063.2:c.7554G>A MANE Select NP_001278992.1:p.Gln2518=