Canonical Allele Identifier: CA1955233118
Gene: OTOG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612764T= , CM000673.2:g.17612764T= GRCh38
NC_000011.9:g.17634311T= , CM000673.1:g.17634311T= GRCh37
NC_000011.8:g.17590887T= NCBI36
NG_033191.1:g.70392T=
NG_033191.2:g.70392T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6473T= ENSP00000382323.2:p.Leu2158=
ENST00000399397.6:c.6437T= MANE Select ENSP00000382329.2:p.Leu2146=
ENST00000342528.2:c.3491T= ENSP00000341666.2:p.Leu1164=
ENST00000399391.6:c.6473T= ENSP00000382323.2:p.Leu2158=
ENST00000399397.5:c.6437T= ENSP00000382329.2:p.Leu2146=
NM_001277269.1:c.6473T= NP_001264198.1:p.Leu2158=
NM_001292063.1:c.6437T= NP_001278992.1:p.Leu2146=
NM_001277269.2:c.6473T= NP_001264198.1:p.Leu2158=
NM_001292063.2:c.6437T= MANE Select NP_001278992.1:p.Leu2146=