Canonical Allele Identifier: CA5906124
Gene: OTOG HGNC NCBI

Linked Data

ClinVar Variation Id: 504787
ClinVar RCV Id: RCV000614697 RCV000920813
dbSNP Id: rs145833172
ExAC: 11:17655701 A / C
gnomAD v2: 11-17655701-A-C
gnomAD v3: 11-17634154-A-C
gnomAD v4: 11-17634154-A-C
MyVariant Identifiers: chr11:g.17655701A>C (hg19) chr11:g.17634154A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17634154A>C , CM000673.2:g.17634154A>C GRCh38
NC_000011.9:g.17655701A>C , CM000673.1:g.17655701A>C GRCh37
NC_000011.8:g.17612277A>C NCBI36
NG_033191.1:g.91782A>C
NG_033191.2:g.91782A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7389A>C ENSP00000382323.2:p.Gln2463His
ENST00000399397.6:c.7353A>C MANE Select ENSP00000382329.2:p.Gln2451His
ENST00000342528.2:c.4321+280A>C ENSP00000341666.2:n.4321+280A>C
ENST00000399391.6:c.7389A>C ENSP00000382323.2:p.Gln2463His
ENST00000399397.5:c.7353A>C ENSP00000382329.2:p.Gln2451His
NM_001277269.1:c.7389A>C NP_001264198.1:p.Gln2463His
NM_001292063.1:c.7353A>C NP_001278992.1:p.Gln2451His
NM_001277269.2:c.7389A>C NP_001264198.1:p.Gln2463His
NM_001292063.2:c.7353A>C MANE Select NP_001278992.1:p.Gln2451His
Search 100 bp 5'
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