Canonical Allele Identifier: CA5906282
Gene: OTOG HGNC NCBI

Linked Data

ClinVar Variation Id: 226920
ClinVar RCV Id: RCV000217789 RCV000966390 RCV001254789
dbSNP Id: rs117315845
ExAC: 11:17663747 G / A
gnomAD v2: 11-17663747-G-A
gnomAD v3: 11-17642200-G-A
gnomAD v4: 11-17642200-G-A
MyVariant Identifiers: chr11:g.17663747G>A (hg19) chr11:g.17642200G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17642200G>A , CM000673.2:g.17642200G>A GRCh38
NC_000011.9:g.17663747G>A , CM000673.1:g.17663747G>A GRCh37
NC_000011.8:g.17620323G>A NCBI36
NG_033191.1:g.99828G>A
NG_033191.2:g.99828G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000399391.7:c.8405G>A ENSP00000382323.2:p.Arg2802His
ENST00000399397.6:c.8369G>A MANE Select ENSP00000382329.2:p.Arg2790His
ENST00000399391.6:c.8405G>A ENSP00000382323.2:p.Arg2802His
ENST00000399397.5:c.8369G>A ENSP00000382329.2:p.Arg2790His
NM_001277269.1:c.8405G>A NP_001264198.1:p.Arg2802His
NM_001292063.1:c.8369G>A NP_001278992.1:p.Arg2790His
NM_001277269.2:c.8405G>A NP_001264198.1:p.Arg2802His
NM_001292063.2:c.8369G>A MANE Select NP_001278992.1:p.Arg2790His
Search 100 bp 5'
Search 100 bp 3'