Canonical Allele Identifier: CA379813112

Gene: OTOG

Linked Data

• ClinVar Variation Id: 2445644
• ClinVar RCV Id: RCV003155563
• dbSNP Id: rs982536669
• gnomAD v4: 11-17635180-C-G
• MyVariant Identifiers: chr11:g.17656727C>G (hg19) ; chr11:g.17635180C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17635180C>G , CM000673.2:g.17635180C>G	GRCh38
NC_000011.9:g.17656727C>G , CM000673.1:g.17656727C>G	GRCh37
NC_000011.8:g.17613303C>G	NCBI36
NG_033191.1:g.92808C>G
NG_033191.2:g.92808C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7722C>G	ENSP00000382323.2:p.Tyr2574Ter
ENST00000399397.6:c.7686C>G MANE Select	ENSP00000382329.2:p.Tyr2562Ter
ENST00000342528.2:c.4322-430C>G	ENSP00000341666.2:n.4322-430C>G
ENST00000399391.6:c.7722C>G	ENSP00000382323.2:p.Tyr2574Ter
ENST00000399397.5:c.7686C>G	ENSP00000382329.2:p.Tyr2562Ter
NM_001277269.1:c.7722C>G	NP_001264198.1:p.Tyr2574Ter
NM_001292063.1:c.7686C>G	NP_001278992.1:p.Tyr2562Ter
NM_001277269.2:c.7722C>G	NP_001264198.1:p.Tyr2574Ter
NM_001292063.2:c.7686C>G MANE Select	NP_001278992.1:p.Tyr2562Ter