Canonical Allele Identifier: CA5905948
Gene: OTOG HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.17611007C>T
GRCh37 chr11:g.17632554C>T
gnomAD v2:
11:17632554 C / T
gnomAD v3:
11:17611007 C / T
gnomAD v4:
chr11-17611007-C-T
Joint Max Group AF 0.00001855 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00001714 (NFE)
ClinVar Allele:
1062292
ClinVar RCV:
RCV001387730
ClinVar Variation:
1074443
dbSNP:
761287044
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17611007C>T , CM000673.2:g.17611007C>T GRCh38
NC_000011.9:g.17632554C>T , CM000673.1:g.17632554C>T GRCh37
NC_000011.8:g.17589130C>T NCBI36
NG_033191.1:g.68635C>T
NG_033191.2:g.68635C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.5743C>T ENSP00000382323.2:p.Arg1915Ter
ENST00000399397.6:c.5707C>T MANE Select ENSP00000382329.2:p.Arg1903Ter
ENST00000342528.2:c.2761C>T ENSP00000341666.2:p.Arg921Ter
ENST00000399391.6:c.5743C>T ENSP00000382323.2:p.Arg1915Ter
ENST00000399397.5:c.5707C>T ENSP00000382329.2:p.Arg1903Ter
NM_001277269.1:c.5743C>T NP_001264198.1:p.Arg1915Ter
NM_001292063.1:c.5707C>T NP_001278992.1:p.Arg1903Ter
NM_001277269.2:c.5743C>T NP_001264198.1:p.Arg1915Ter
NM_001292063.2:c.5707C>T MANE Select NP_001278992.1:p.Arg1903Ter
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