Canonical Allele Identifier: CA379812624

Gene: OTOG

Linked Data

• ClinVar Variation Id: 1403533
• ClinVar RCV Id: RCV001925386
• dbSNP Id: rs1430372915
• gnomAD v4: 11-17634885-C-A
• MyVariant Identifiers: chr11:g.17656432C>A (hg19) ; chr11:g.17634885C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17634885C>A , CM000673.2:g.17634885C>A	GRCh38
NC_000011.9:g.17656432C>A , CM000673.1:g.17656432C>A	GRCh37
NC_000011.8:g.17613008C>A	NCBI36
NG_033191.1:g.92513C>A
NG_033191.2:g.92513C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7558C>A	ENSP00000382323.2:p.Arg2520Ser
ENST00000399397.6:c.7522C>A MANE Select	ENSP00000382329.2:p.Arg2508Ser
ENST00000342528.2:c.4322-725C>A	ENSP00000341666.2:n.4322-725C>A
ENST00000399391.6:c.7558C>A	ENSP00000382323.2:p.Arg2520Ser
ENST00000399397.5:c.7522C>A	ENSP00000382329.2:p.Arg2508Ser
NM_001277269.1:c.7558C>A	NP_001264198.1:p.Arg2520Ser
NM_001292063.1:c.7522C>A	NP_001278992.1:p.Arg2508Ser
NM_001277269.2:c.7558C>A	NP_001264198.1:p.Arg2520Ser
NM_001292063.2:c.7522C>A MANE Select	NP_001278992.1:p.Arg2508Ser