Canonical Allele Identifier: CA5905798
Gene: OTOG HGNC NCBI

Linked Data

ClinVar Variation Id: 226891
ClinVar RCV Id: RCV000216051 RCV000844405 RCV001254785 RCV003937811
dbSNP Id: rs145689709
ExAC: 11:17627548 G / A
gnomAD v2: 11-17627548-G-A
gnomAD v3: 11-17606001-G-A
gnomAD v4: 11-17606001-G-A
MyVariant Identifiers: chr11:g.17627548G>A (hg19) chr11:g.17606001G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17606001G>A , CM000673.2:g.17606001G>A GRCh38
NC_000011.9:g.17627548G>A , CM000673.1:g.17627548G>A GRCh37
NC_000011.8:g.17584124G>A NCBI36
NG_033191.1:g.63629G>A
NG_033191.2:g.63629G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.4058G>A ENSP00000382323.2:p.Arg1353Gln
ENST00000399397.6:c.4022G>A MANE Select ENSP00000382329.2:p.Arg1341Gln
ENST00000342528.2:c.1076G>A ENSP00000341666.2:p.Arg359Gln
ENST00000399391.6:c.4058G>A ENSP00000382323.2:p.Arg1353Gln
ENST00000399397.5:c.4022G>A ENSP00000382329.2:p.Arg1341Gln
NM_001277269.1:c.4058G>A NP_001264198.1:p.Arg1353Gln
NM_001292063.1:c.4022G>A NP_001278992.1:p.Arg1341Gln
NM_001277269.2:c.4058G>A NP_001264198.1:p.Arg1353Gln
NM_001292063.2:c.4022G>A MANE Select NP_001278992.1:p.Arg1341Gln
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