Canonical Allele Identifier: CA379811489

Gene: OTOG

Linked Data

• gnomAD v4: 11-17553431-T-A
• MyVariant Identifiers: chr11:g.17574978T>A (hg19) ; chr11:g.17553431T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553431T>A , CM000673.2:g.17553431T>A	GRCh38
NC_000011.9:g.17574978T>A , CM000673.1:g.17574978T>A	GRCh37
NC_000011.8:g.17531554T>A	NCBI36
NG_033191.1:g.11059T>A
NG_033191.2:g.11059T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.488T>A	ENSP00000382323.2:p.Phe163Tyr
ENST00000399397.6:c.452T>A MANE Select	ENSP00000382329.2:p.Phe151Tyr
ENST00000399391.6:c.488T>A	ENSP00000382323.2:p.Phe163Tyr
ENST00000399397.5:c.452T>A	ENSP00000382329.2:p.Phe151Tyr
ENST00000428619.1:c.269T>A	ENSP00000399057.2:p.Phe90Tyr
ENST00000498332.5:n.358T>A
NM_001277269.1:c.488T>A	NP_001264198.1:p.Phe163Tyr
NM_001292063.1:c.452T>A	NP_001278992.1:p.Phe151Tyr
NM_001277269.2:c.488T>A	NP_001264198.1:p.Phe163Tyr
NM_001292063.2:c.452T>A MANE Select	NP_001278992.1:p.Phe151Tyr