Canonical Allele Identifier: CA379811104

Gene: OTOG

Linked Data

• dbSNP Id: rs1253570421
• gnomAD v2: 11-17574929-G-A
• gnomAD v3: 11-17553382-G-A
• gnomAD v4: 11-17553382-G-A
• MyVariant Identifiers: chr11:g.17574929G>A (hg19) ; chr11:g.17553382G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553382G>A , CM000673.2:g.17553382G>A	GRCh38
NC_000011.9:g.17574929G>A , CM000673.1:g.17574929G>A	GRCh37
NC_000011.8:g.17531505G>A	NCBI36
NG_033191.1:g.11010G>A
NG_033191.2:g.11010G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000399391.7:c.439G>A	ENSP00000382323.2:p.Glu147Lys
ENST00000399397.6:c.403G>A MANE Select	ENSP00000382329.2:p.Glu135Lys
ENST00000399391.6:c.439G>A	ENSP00000382323.2:p.Glu147Lys
ENST00000399397.5:c.403G>A	ENSP00000382329.2:p.Glu135Lys
ENST00000428619.1:c.220G>A	ENSP00000399057.2:p.Glu74Lys
ENST00000498332.5:n.309G>A
NM_001277269.1:c.439G>A	NP_001264198.1:p.Glu147Lys
NM_001292063.1:c.403G>A	NP_001278992.1:p.Glu135Lys
NM_001277269.2:c.439G>A	NP_001264198.1:p.Glu147Lys
NM_001292063.2:c.403G>A MANE Select	NP_001278992.1:p.Glu135Lys