Canonical Allele Identifier: CA5906303
Gene: OTOG HGNC NCBI

Linked Data

ClinVar Variation Id: 226921
ClinVar RCV Id: RCV000222078 RCV000958387 RCV001254790
dbSNP Id: rs61997203
ExAC: 11:17667139 G / C
gnomAD v2: 11-17667139-G-C
gnomAD v3: 11-17645592-G-C
gnomAD v4: 11-17645592-G-C
MyVariant Identifiers: chr11:g.17667139G>C (hg19) chr11:g.17645592G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17645592G>C , CM000673.2:g.17645592G>C GRCh38
NC_000011.9:g.17667139G>C , CM000673.1:g.17667139G>C GRCh37
NC_000011.8:g.17623715G>C NCBI36
NG_033191.1:g.103220G>C
NG_033191.2:g.103220G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000399391.7:c.8526G>C ENSP00000382323.2:p.Lys2842Asn
ENST00000399397.6:c.8490G>C MANE Select ENSP00000382329.2:p.Lys2830Asn
ENST00000399391.6:c.8526G>C ENSP00000382323.2:p.Lys2842Asn
ENST00000399397.5:c.8490G>C ENSP00000382329.2:p.Lys2830Asn
NM_001277269.1:c.8526G>C NP_001264198.1:p.Lys2842Asn
NM_001292063.1:c.8490G>C NP_001278992.1:p.Lys2830Asn
NM_001277269.2:c.8526G>C NP_001264198.1:p.Lys2842Asn
NM_001292063.2:c.8490G>C MANE Select NP_001278992.1:p.Lys2830Asn
Search 100 bp 5'
Search 100 bp 3'