Canonical Allele Identifier: CA379804065
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612327G>C , CM000673.2:g.17612327G>C GRCh38
NC_000011.9:g.17633874G>C , CM000673.1:g.17633874G>C GRCh37
NC_000011.8:g.17590450G>C NCBI36
NG_033191.1:g.69955G>C
NG_033191.2:g.69955G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6325G>C ENSP00000382323.2:p.Ala2109Pro
ENST00000399397.6:c.6289G>C MANE Select ENSP00000382329.2:p.Ala2097Pro
ENST00000342528.2:c.3343G>C ENSP00000341666.2:p.Ala1115Pro
ENST00000399391.6:c.6325G>C ENSP00000382323.2:p.Ala2109Pro
ENST00000399397.5:c.6289G>C ENSP00000382329.2:p.Ala2097Pro
NM_001277269.1:c.6325G>C NP_001264198.1:p.Ala2109Pro
NM_001292063.1:c.6289G>C NP_001278992.1:p.Ala2097Pro
NM_001277269.2:c.6325G>C NP_001264198.1:p.Ala2109Pro
NM_001292063.2:c.6289G>C MANE Select NP_001278992.1:p.Ala2097Pro