Canonical Allele Identifier: CA379811794

Gene: OTOG

Linked Data

• dbSNP Id: rs779427684
• gnomAD v2: 11-17575032-G-A
• gnomAD v3: 11-17553485-G-A
• gnomAD v4: 11-17553485-G-A
• MyVariant Identifiers: chr11:g.17575032G>A (hg19) ; chr11:g.17553485G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553485G>A , CM000673.2:g.17553485G>A	GRCh38
NC_000011.9:g.17575032G>A , CM000673.1:g.17575032G>A	GRCh37
NC_000011.8:g.17531608G>A	NCBI36
NG_033191.1:g.11113G>A
NG_033191.2:g.11113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.542G>A	ENSP00000382323.2:p.Arg181His
ENST00000399397.6:c.506G>A MANE Select	ENSP00000382329.2:p.Arg169His
ENST00000399391.6:c.542G>A	ENSP00000382323.2:p.Arg181His
ENST00000399397.5:c.506G>A	ENSP00000382329.2:p.Arg169His
ENST00000498332.5:n.412G>A
NM_001277269.1:c.542G>A	NP_001264198.1:p.Arg181His
NM_001292063.1:c.506G>A	NP_001278992.1:p.Arg169His
NM_001277269.2:c.542G>A	NP_001264198.1:p.Arg181His
NM_001292063.2:c.506G>A MANE Select	NP_001278992.1:p.Arg169His