Canonical Allele Identifier: CA5905420
Gene: OTOG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17558236C>A , CM000673.2:g.17558236C>A GRCh38
NC_000011.9:g.17579783C>A , CM000673.1:g.17579783C>A GRCh37
NC_000011.8:g.17536359C>A NCBI36
NG_033191.1:g.15864C>A
NG_033191.2:g.15864C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.953C>A ENSP00000382323.2:p.Ala318Asp
ENST00000399397.6:c.917C>A MANE Select ENSP00000382329.2:p.Ala306Asp
ENST00000399391.6:c.953C>A ENSP00000382323.2:p.Ala318Asp
ENST00000399397.5:c.917C>A ENSP00000382329.2:p.Ala306Asp
ENST00000485669.1:n.405-226C>A
ENST00000498332.5:n.823C>A
NM_001277269.1:c.953C>A NP_001264198.1:p.Ala318Asp
NM_001292063.1:c.917C>A NP_001278992.1:p.Ala306Asp
NM_001277269.2:c.953C>A NP_001264198.1:p.Ala318Asp
NM_001292063.2:c.917C>A MANE Select NP_001278992.1:p.Ala306Asp