Canonical Allele Identifier: CA5905344
Gene: OTOG HGNC NCBI

Linked Data

ClinVar Variation Id: 229094
ClinVar RCV Id: RCV000216800 RCV001254781 RCV001333066 RCV001546177
dbSNP Id: rs552304627
ExAC: 11:17574758 G / A
gnomAD v2: 11-17574758-G-A
gnomAD v3: 11-17553211-G-A
gnomAD v4: 11-17553211-G-A
MyVariant Identifiers: chr11:g.17574758G>A (hg19) chr11:g.17553211G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553211G>A , CM000673.2:g.17553211G>A GRCh38
NC_000011.9:g.17574758G>A , CM000673.1:g.17574758G>A GRCh37
NC_000011.8:g.17531334G>A NCBI36
NG_033191.1:g.10839G>A
NG_033191.2:g.10839G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.421G>A ENSP00000382323.2:p.Val141Met
ENST00000399397.6:c.385G>A MANE Select ENSP00000382329.2:p.Val129Met
ENST00000399391.6:c.421G>A ENSP00000382323.2:p.Val141Met
ENST00000399397.5:c.385G>A ENSP00000382329.2:p.Val129Met
ENST00000428619.1:c.202G>A ENSP00000399057.2:p.Val68Met
ENST00000498332.5:n.291G>A
NM_001277269.1:c.421G>A NP_001264198.1:p.Val141Met
NM_001292063.1:c.385G>A NP_001278992.1:p.Val129Met
NM_001277269.2:c.421G>A NP_001264198.1:p.Val141Met
NM_001292063.2:c.385G>A MANE Select NP_001278992.1:p.Val129Met
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