Canonical Allele Identifier: CA379810714

Gene: OTOG

Linked Data

• gnomAD v4: 11-17553166-T-C
• MyVariant Identifiers: chr11:g.17574713T>C (hg19) ; chr11:g.17553166T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553166T>C , CM000673.2:g.17553166T>C	GRCh38
NC_000011.9:g.17574713T>C , CM000673.1:g.17574713T>C	GRCh37
NC_000011.8:g.17531289T>C	NCBI36
NG_033191.1:g.10794T>C
NG_033191.2:g.10794T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.376T>C	ENSP00000382323.2:p.Cys126Arg
ENST00000399397.6:c.340T>C MANE Select	ENSP00000382329.2:p.Cys114Arg
ENST00000399391.6:c.376T>C	ENSP00000382323.2:p.Cys126Arg
ENST00000399397.5:c.340T>C	ENSP00000382329.2:p.Cys114Arg
ENST00000428619.1:c.157T>C	ENSP00000399057.2:p.Cys53Arg
ENST00000498332.5:n.246T>C
NM_001277269.1:c.376T>C	NP_001264198.1:p.Cys126Arg
NM_001292063.1:c.340T>C	NP_001278992.1:p.Cys114Arg
NM_001277269.2:c.376T>C	NP_001264198.1:p.Cys126Arg
NM_001292063.2:c.340T>C MANE Select	NP_001278992.1:p.Cys114Arg