Canonical Allele Identifier: CA5906281
Gene: OTOG HGNC NCBI

Linked Data

ClinVar Variation Id: 226919
ClinVar RCV Id: RCV000213413 RCV001421025 RCV002054396
dbSNP Id: rs2023483
ExAC: 11:17663742 G / C
gnomAD v2: 11-17663742-G-C
gnomAD v3: 11-17642195-G-C
gnomAD v4: 11-17642195-G-C
MyVariant Identifiers: chr11:g.17663742G>C (hg19) chr11:g.17642195G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17642195G>C , CM000673.2:g.17642195G>C GRCh38
NC_000011.9:g.17663742G>C , CM000673.1:g.17663742G>C GRCh37
NC_000011.8:g.17620318G>C NCBI36
NG_033191.1:g.99823G>C
NG_033191.2:g.99823G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.8400G>C ENSP00000382323.2:p.Leu2800=
ENST00000399397.6:c.8364G>C MANE Select ENSP00000382329.2:p.Leu2788=
ENST00000399391.6:c.8400G>C ENSP00000382323.2:p.Leu2800=
ENST00000399397.5:c.8364G>C ENSP00000382329.2:p.Leu2788=
NM_001277269.1:c.8400G>C NP_001264198.1:p.Leu2800=
NM_001292063.1:c.8364G>C NP_001278992.1:p.Leu2788=
NM_001277269.2:c.8400G>C NP_001264198.1:p.Leu2800=
NM_001292063.2:c.8364G>C MANE Select NP_001278992.1:p.Leu2788=
Search 100 bp 5'
Search 100 bp 3'