Canonical Allele Identifier: CA379804423
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612699C>A , CM000673.2:g.17612699C>A GRCh38
NC_000011.9:g.17634246C>A , CM000673.1:g.17634246C>A GRCh37
NC_000011.8:g.17590822C>A NCBI36
NG_033191.1:g.70327C>A
NG_033191.2:g.70327C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6408C>A ENSP00000382323.2:p.Tyr2136Ter
ENST00000399397.6:c.6372C>A MANE Select ENSP00000382329.2:p.Tyr2124Ter
ENST00000342528.2:c.3426C>A ENSP00000341666.2:p.Tyr1142Ter
ENST00000399391.6:c.6408C>A ENSP00000382323.2:p.Tyr2136Ter
ENST00000399397.5:c.6372C>A ENSP00000382329.2:p.Tyr2124Ter
NM_001277269.1:c.6408C>A NP_001264198.1:p.Tyr2136Ter
NM_001292063.1:c.6372C>A NP_001278992.1:p.Tyr2124Ter
NM_001277269.2:c.6408C>A NP_001264198.1:p.Tyr2136Ter
NM_001292063.2:c.6372C>A MANE Select NP_001278992.1:p.Tyr2124Ter