Canonical Allele Identifier: CA5905366
Gene: OTOG HGNC NCBI

Linked Data

ClinVar Variation Id: 2064991
ClinVar RCV Id: RCV002928951
dbSNP Id: rs553286919

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553484C>T , CM000673.2:g.17553484C>T GRCh38
NC_000011.9:g.17575031C>T , CM000673.1:g.17575031C>T GRCh37
NC_000011.8:g.17531607C>T NCBI36
NG_033191.1:g.11112C>T
NG_033191.2:g.11112C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.541C>T ENSP00000382323.2:p.Arg181Cys
ENST00000399397.6:c.505C>T MANE Select ENSP00000382329.2:p.Arg169Cys
ENST00000399391.6:c.541C>T ENSP00000382323.2:p.Arg181Cys
ENST00000399397.5:c.505C>T ENSP00000382329.2:p.Arg169Cys
ENST00000498332.5:n.411C>T
NM_001277269.1:c.541C>T NP_001264198.1:p.Arg181Cys
NM_001292063.1:c.505C>T NP_001278992.1:p.Arg169Cys
NM_001277269.2:c.541C>T NP_001264198.1:p.Arg181Cys
NM_001292063.2:c.505C>T MANE Select NP_001278992.1:p.Arg169Cys