Canonical Allele Identifier: CA379810726

Gene: OTOG

Linked Data

• MyVariant Identifiers: chr11:g.17574715T>G (hg19) ; chr11:g.17553168T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553168T>G , CM000673.2:g.17553168T>G	GRCh38
NC_000011.9:g.17574715T>G , CM000673.1:g.17574715T>G	GRCh37
NC_000011.8:g.17531291T>G	NCBI36
NG_033191.1:g.10796T>G
NG_033191.2:g.10796T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.378T>G	ENSP00000382323.2:p.Cys126Trp
ENST00000399397.6:c.342T>G MANE Select	ENSP00000382329.2:p.Cys114Trp
ENST00000399391.6:c.378T>G	ENSP00000382323.2:p.Cys126Trp
ENST00000399397.5:c.342T>G	ENSP00000382329.2:p.Cys114Trp
ENST00000428619.1:c.159T>G	ENSP00000399057.2:p.Cys53Trp
ENST00000498332.5:n.248T>G
NM_001277269.1:c.378T>G	NP_001264198.1:p.Cys126Trp
NM_001292063.1:c.342T>G	NP_001278992.1:p.Cys114Trp
NM_001277269.2:c.378T>G	NP_001264198.1:p.Cys126Trp
NM_001292063.2:c.342T>G MANE Select	NP_001278992.1:p.Cys114Trp