Canonical Allele Identifier: CA473305797

Gene: OTOG

Linked Data

• gnomAD v4: 11-17612729-C-A
• MyVariant Identifiers: chr11:g.17634276C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612729C>A , CM000673.2:g.17612729C>A	GRCh38
NC_000011.9:g.17634276C>A , CM000673.1:g.17634276C>A	GRCh37
NC_000011.8:g.17590852C>A	NCBI36
NG_033191.1:g.70357C>A
NG_033191.2:g.70357C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6438C>A	ENSP00000382323.2:p.Leu2146=
ENST00000399397.6:c.6402C>A MANE Select	ENSP00000382329.2:p.Leu2134=
ENST00000342528.2:c.3456C>A	ENSP00000341666.2:p.Leu1152=
ENST00000399391.6:c.6438C>A	ENSP00000382323.2:p.Leu2146=
ENST00000399397.5:c.6402C>A	ENSP00000382329.2:p.Leu2134=
NM_001277269.1:c.6438C>A	NP_001264198.1:p.Leu2146=
NM_001292063.1:c.6402C>A	NP_001278992.1:p.Leu2134=
NM_001277269.2:c.6438C>A	NP_001264198.1:p.Leu2146=
NM_001292063.2:c.6402C>A MANE Select	NP_001278992.1:p.Leu2134=