Canonical Allele Identifier: CA473310793
Gene: OTOG HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17656416T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17634869T>C , CM000673.2:g.17634869T>C GRCh38
NC_000011.9:g.17656416T>C , CM000673.1:g.17656416T>C GRCh37
NC_000011.8:g.17612992T>C NCBI36
NG_033191.1:g.92497T>C
NG_033191.2:g.92497T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7542T>C ENSP00000382323.2:p.Gly2514=
ENST00000399397.6:c.7506T>C MANE Select ENSP00000382329.2:p.Gly2502=
ENST00000342528.2:c.4322-741T>C ENSP00000341666.2:n.4322-741T>C
ENST00000399391.6:c.7542T>C ENSP00000382323.2:p.Gly2514=
ENST00000399397.5:c.7506T>C ENSP00000382329.2:p.Gly2502=
NM_001277269.1:c.7542T>C NP_001264198.1:p.Gly2514=
NM_001292063.1:c.7506T>C NP_001278992.1:p.Gly2502=
NM_001277269.2:c.7542T>C NP_001264198.1:p.Gly2514=
NM_001292063.2:c.7506T>C MANE Select NP_001278992.1:p.Gly2502=