Canonical Allele Identifier: CA379803989
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612315C>A , CM000673.2:g.17612315C>A GRCh38
NC_000011.9:g.17633862C>A , CM000673.1:g.17633862C>A GRCh37
NC_000011.8:g.17590438C>A NCBI36
NG_033191.1:g.69943C>A
NG_033191.2:g.69943C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6313C>A ENSP00000382323.2:p.Leu2105Ile
ENST00000399397.6:c.6277C>A MANE Select ENSP00000382329.2:p.Leu2093Ile
ENST00000342528.2:c.3331C>A ENSP00000341666.2:p.Leu1111Ile
ENST00000399391.6:c.6313C>A ENSP00000382323.2:p.Leu2105Ile
ENST00000399397.5:c.6277C>A ENSP00000382329.2:p.Leu2093Ile
NM_001277269.1:c.6313C>A NP_001264198.1:p.Leu2105Ile
NM_001292063.1:c.6277C>A NP_001278992.1:p.Leu2093Ile
NM_001277269.2:c.6313C>A NP_001264198.1:p.Leu2105Ile
NM_001292063.2:c.6277C>A MANE Select NP_001278992.1:p.Leu2093Ile