Canonical Allele Identifier: CA5905356
Gene: OTOG HGNC NCBI

Linked Data

ClinVar Variation Id: 930162
ClinVar RCV Id: RCV001195627 RCV001760155
dbSNP Id: rs752392477
ExAC: 11:17574947 C / T
gnomAD v2: 11-17574947-C-T
gnomAD v3: 11-17553400-C-T
gnomAD v4: 11-17553400-C-T
MyVariant Identifiers: chr11:g.17574947C>T (hg19) chr11:g.17553400C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553400C>T , CM000673.2:g.17553400C>T GRCh38
NC_000011.9:g.17574947C>T , CM000673.1:g.17574947C>T GRCh37
NC_000011.8:g.17531523C>T NCBI36
NG_033191.1:g.11028C>T
NG_033191.2:g.11028C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.457C>T ENSP00000382323.2:p.Arg153Trp
ENST00000399397.6:c.421C>T MANE Select ENSP00000382329.2:p.Arg141Trp
ENST00000399391.6:c.457C>T ENSP00000382323.2:p.Arg153Trp
ENST00000399397.5:c.421C>T ENSP00000382329.2:p.Arg141Trp
ENST00000428619.1:c.238C>T ENSP00000399057.2:p.Arg80Trp
ENST00000498332.5:n.327C>T
NM_001277269.1:c.457C>T NP_001264198.1:p.Arg153Trp
NM_001292063.1:c.421C>T NP_001278992.1:p.Arg141Trp
NM_001277269.2:c.457C>T NP_001264198.1:p.Arg153Trp
NM_001292063.2:c.421C>T MANE Select NP_001278992.1:p.Arg141Trp
Search 100 bp 5'
Search 100 bp 3'