Canonical Allele Identifier: CA5906182
Gene: OTOG HGNC NCBI

Linked Data

ClinVar Variation Id: 1179662
ClinVar RCV Id: RCV001536697 RCV003921195
dbSNP Id: rs528655967
ExAC: 11:17660080 C / G
gnomAD v2: 11-17660080-C-G
gnomAD v3: 11-17638533-C-G
gnomAD v4: 11-17638533-C-G
MyVariant Identifiers: chr11:g.17660080C>G (hg19) chr11:g.17638533C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17638533C>G , CM000673.2:g.17638533C>G GRCh38
NC_000011.9:g.17660080C>G , CM000673.1:g.17660080C>G GRCh37
NC_000011.8:g.17616656C>G NCBI36
NG_033191.1:g.96161C>G
NG_033191.2:g.96161C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7914C>G ENSP00000382323.2:p.Cys2638Trp
ENST00000399397.6:c.7878C>G MANE Select ENSP00000382329.2:p.Cys2626Trp
ENST00000342528.2:c.4506C>G ENSP00000341666.2:p.Cys1502Trp
ENST00000399391.6:c.7914C>G ENSP00000382323.2:p.Cys2638Trp
ENST00000399397.5:c.7878C>G ENSP00000382329.2:p.Cys2626Trp
NM_001277269.1:c.7914C>G NP_001264198.1:p.Cys2638Trp
NM_001292063.1:c.7878C>G NP_001278992.1:p.Cys2626Trp
NM_001277269.2:c.7914C>G NP_001264198.1:p.Cys2638Trp
NM_001292063.2:c.7878C>G MANE Select NP_001278992.1:p.Cys2626Trp
Search 100 bp 5'
Search 100 bp 3'