Canonical Allele Identifier: CA379813038
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17635145A>C , CM000673.2:g.17635145A>C GRCh38
NC_000011.9:g.17656692A>C , CM000673.1:g.17656692A>C GRCh37
NC_000011.8:g.17613268A>C NCBI36
NG_033191.1:g.92773A>C
NG_033191.2:g.92773A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7687A>C ENSP00000382323.2:p.Thr2563Pro
ENST00000399397.6:c.7651A>C MANE Select ENSP00000382329.2:p.Thr2551Pro
ENST00000342528.2:c.4322-465A>C ENSP00000341666.2:n.4322-465A>C
ENST00000399391.6:c.7687A>C ENSP00000382323.2:p.Thr2563Pro
ENST00000399397.5:c.7651A>C ENSP00000382329.2:p.Thr2551Pro
NM_001277269.1:c.7687A>C NP_001264198.1:p.Thr2563Pro
NM_001292063.1:c.7651A>C NP_001278992.1:p.Thr2551Pro
NM_001277269.2:c.7687A>C NP_001264198.1:p.Thr2563Pro
NM_001292063.2:c.7651A>C MANE Select NP_001278992.1:p.Thr2551Pro