Canonical Allele Identifier: CA5906180

Gene: OTOG

Linked Data

• ClinVar Variation Id: 227799
• ClinVar RCV Id: RCV000215434 ; RCV000712489
• dbSNP Id: rs61995750
• ExAC: 11:17660027 C / A
• gnomAD v2: 11-17660027-C-A
• gnomAD v3: 11-17638480-C-A
• gnomAD v4: 11-17638480-C-A
• MyVariant Identifiers: chr11:g.17660027C>A (hg19) ; chr11:g.17638480C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17638480C>A , CM000673.2:g.17638480C>A	GRCh38
NC_000011.9:g.17660027C>A , CM000673.1:g.17660027C>A	GRCh37
NC_000011.8:g.17616603C>A	NCBI36
NG_033191.1:g.96108C>A
NG_033191.2:g.96108C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7861C>A	ENSP00000382323.2:p.Gln2621Lys
ENST00000399397.6:c.7825C>A MANE Select	ENSP00000382329.2:p.Gln2609Lys
ENST00000342528.2:c.4453C>A	ENSP00000341666.2:p.Gln1485Lys
ENST00000399391.6:c.7861C>A	ENSP00000382323.2:p.Gln2621Lys
ENST00000399397.5:c.7825C>A	ENSP00000382329.2:p.Gln2609Lys
NM_001277269.1:c.7861C>A	NP_001264198.1:p.Gln2621Lys
NM_001292063.1:c.7825C>A	NP_001278992.1:p.Gln2609Lys
NM_001277269.2:c.7861C>A	NP_001264198.1:p.Gln2621Lys
NM_001292063.2:c.7825C>A MANE Select	NP_001278992.1:p.Gln2609Lys