Canonical Allele Identifier: CA379811707

Gene: OTOG

Linked Data

• gnomAD v4: 11-17553468-C-A
• MyVariant Identifiers: chr11:g.17575015C>A (hg19) ; chr11:g.17553468C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553468C>A , CM000673.2:g.17553468C>A	GRCh38
NC_000011.9:g.17575015C>A , CM000673.1:g.17575015C>A	GRCh37
NC_000011.8:g.17531591C>A	NCBI36
NG_033191.1:g.11096C>A
NG_033191.2:g.11096C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.525C>A	ENSP00000382323.2:p.Ser175Arg
ENST00000399397.6:c.489C>A MANE Select	ENSP00000382329.2:p.Ser163Arg
ENST00000399391.6:c.525C>A	ENSP00000382323.2:p.Ser175Arg
ENST00000399397.5:c.489C>A	ENSP00000382329.2:p.Ser163Arg
ENST00000498332.5:n.395C>A
NM_001277269.1:c.525C>A	NP_001264198.1:p.Ser175Arg
NM_001292063.1:c.489C>A	NP_001278992.1:p.Ser163Arg
NM_001277269.2:c.525C>A	NP_001264198.1:p.Ser175Arg
NM_001292063.2:c.489C>A MANE Select	NP_001278992.1:p.Ser163Arg