Canonical Allele Identifier: CA218504251
Gene: OTOG HGNC NCBI

Linked Data

ClinVar Variation Id: 517260
ClinVar RCV Id: RCV000612114
dbSNP Id: rs1032491736

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:n.1829G>A ENSP00000382323.2:p.Arg610His
ENST00000399397.6:c.1793G>A MANE Select ENSP00000382329.2:p.Arg598His
ENST00000399391.6:n.1829G>A ENSP00000382323.2:p.Arg610His
ENST00000399397.5:n.1793G>A ENSP00000382329.2:p.Arg598His
ENST00000498332.5:n.1699G>A
NM_001277269.1:n.1829G>A NP_001264198.1:p.Arg610His
NM_001292063.1:n.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