Canonical Allele Identifier: CA5905310
Gene: OTOG HGNC NCBI

Linked Data

ClinVar Variation Id: 226863
dbSNP Id: rs111425080

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17547503G>A , CM000673.2:g.17547503G>A GRCh38
NC_000011.9:g.17569050G>A , CM000673.1:g.17569050G>A GRCh37
NC_000011.8:g.17525626G>A NCBI36
NG_011883.1:g.1914C>T
NG_033191.1:g.5131G>A
NG_011883.2:g.1914C>T
NG_033191.2:g.5131G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000399391.7:c.131G>A ENSP00000382323.2:p.Arg44Gln
ENST00000399397.6:c.94+37G>A MANE Select ENSP00000382329.2:n.94+37G>A
ENST00000399391.6:c.131G>A ENSP00000382323.2:p.Arg44Gln
ENST00000399397.5:c.94+37G>A ENSP00000382329.2:n.94+37G>A
NM_001277269.1:c.131G>A NP_001264198.1:p.Arg44Gln
NM_001292063.1:c.94+37G>A NP_001278992.1:n.94+37G>A
NM_001277269.2:c.131G>A NP_001264198.1:p.Arg44Gln
NM_001292063.2:c.94+37G>A MANE Select NP_001278992.1:n.94+37G>A