Canonical Allele Identifier: CA218504251
Gene: OTOG HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.17570228G>A
GRCh37 chr11:g.17591775G>A
Revel Score:
ENST00000399391 0.323
ENST00000399397 (MANE Select) 0.323
gnomAD v2:
11:17591775 G / A
gnomAD v3:
11:17570228 G / A
gnomAD v4:
chr11-17570228-G-A
Joint Max Group AF 0.0000352 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00003565 (NFE)
ClinVar RCV:
RCV000612114
ClinVar Variation:
517260
dbSNP:
1032491736
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17570228G>A , CM000673.2:g.17570228G>A GRCh38
NC_000011.9:g.17591775G>A , CM000673.1:g.17591775G>A GRCh37
NC_000011.8:g.17548351G>A NCBI36
NG_033191.1:g.27856G>A
NG_033191.2:g.27856G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.1829G>A ENSP00000382323.2:p.Arg610His
ENST00000399397.6:c.1793G>A MANE Select ENSP00000382329.2:p.Arg598His
ENST00000399391.6:c.1829G>A ENSP00000382323.2:p.Arg610His
ENST00000399397.5:c.1793G>A ENSP00000382329.2:p.Arg598His
ENST00000498332.5:n.1699G>A
NM_001277269.1:c.1829G>A NP_001264198.1:p.Arg610His
NM_001292063.1:c.1793G>A NP_001278992.1:p.Arg598His
NM_001277269.2:c.1829G>A NP_001264198.1:p.Arg610His
NM_001292063.2:c.1793G>A MANE Select NP_001278992.1:p.Arg598His
Search 100 bp 5'
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