Canonical Allele Identifier: CA5906000

Gene: OTOG

Linked Data

• ClinVar Variation Id: 451001
• ClinVar RCV Id: RCV000523753 ; RCV000763723 ; RCV000766973
• dbSNP Id: rs188527711
• ExAC: 11:17633764 G / A
• gnomAD v2: 11-17633764-G-A
• gnomAD v3: 11-17612217-G-A
• gnomAD v4: 11-17612217-G-A
• MyVariant Identifiers: chr11:g.17633764G>A (hg19) ; chr11:g.17612217G>A (hg38)
• PubMed: PMID:28050010

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612217G>A , CM000673.2:g.17612217G>A	GRCh38
NC_000011.9:g.17633764G>A , CM000673.1:g.17633764G>A	GRCh37
NC_000011.8:g.17590340G>A	NCBI36
NG_033191.1:g.69845G>A
NG_033191.2:g.69845G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000399391.7:c.6215G>A	ENSP00000382323.2:p.Arg2072His
ENST00000399397.6:c.6179G>A MANE Select	ENSP00000382329.2:p.Arg2060His
ENST00000342528.2:c.3233G>A	ENSP00000341666.2:p.Arg1078His
ENST00000399391.6:c.6215G>A	ENSP00000382323.2:p.Arg2072His
ENST00000399397.5:c.6179G>A	ENSP00000382329.2:p.Arg2060His
NM_001277269.1:c.6215G>A	NP_001264198.1:p.Arg2072His
NM_001292063.1:c.6179G>A	NP_001278992.1:p.Arg2060His
NM_001277269.2:c.6215G>A	NP_001264198.1:p.Arg2072His
NM_001292063.2:c.6179G>A MANE Select	NP_001278992.1:p.Arg2060His