Canonical Allele Identifier: CA379804437

Gene: OTOG

Linked Data

• dbSNP Id: rs1853592379
• gnomAD v4: 11-17612703-C-A
• MyVariant Identifiers: chr11:g.17634250C>A (hg19) ; chr11:g.17612703C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612703C>A , CM000673.2:g.17612703C>A	GRCh38
NC_000011.9:g.17634250C>A , CM000673.1:g.17634250C>A	GRCh37
NC_000011.8:g.17590826C>A	NCBI36
NG_033191.1:g.70331C>A
NG_033191.2:g.70331C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6412C>A	ENSP00000382323.2:p.Leu2138Ile
ENST00000399397.6:c.6376C>A MANE Select	ENSP00000382329.2:p.Leu2126Ile
ENST00000342528.2:c.3430C>A	ENSP00000341666.2:p.Leu1144Ile
ENST00000399391.6:c.6412C>A	ENSP00000382323.2:p.Leu2138Ile
ENST00000399397.5:c.6376C>A	ENSP00000382329.2:p.Leu2126Ile
NM_001277269.1:c.6412C>A	NP_001264198.1:p.Leu2138Ile
NM_001292063.1:c.6376C>A	NP_001278992.1:p.Leu2126Ile
NM_001277269.2:c.6412C>A	NP_001264198.1:p.Leu2138Ile
NM_001292063.2:c.6376C>A MANE Select	NP_001278992.1:p.Leu2126Ile