Canonical Allele Identifier: CA379810643
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553158C>A , CM000673.2:g.17553158C>A GRCh38
NC_000011.9:g.17574705C>A , CM000673.1:g.17574705C>A GRCh37
NC_000011.8:g.17531281C>A NCBI36
NG_033191.1:g.10786C>A
NG_033191.2:g.10786C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.368C>A ENSP00000382323.2:p.Pro123Gln
ENST00000399397.6:c.332C>A MANE Select ENSP00000382329.2:p.Pro111Gln
ENST00000399391.6:c.368C>A ENSP00000382323.2:p.Pro123Gln
ENST00000399397.5:c.332C>A ENSP00000382329.2:p.Pro111Gln
ENST00000428619.1:c.149C>A ENSP00000399057.2:p.Pro50Gln
ENST00000498332.5:n.238C>A
NM_001277269.1:c.368C>A NP_001264198.1:p.Pro123Gln
NM_001292063.1:c.332C>A NP_001278992.1:p.Pro111Gln
NM_001277269.2:c.368C>A NP_001264198.1:p.Pro123Gln
NM_001292063.2:c.332C>A MANE Select NP_001278992.1:p.Pro111Gln