Canonical Allele Identifier: CA379810596
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553151G>A , CM000673.2:g.17553151G>A GRCh38
NC_000011.9:g.17574698G>A , CM000673.1:g.17574698G>A GRCh37
NC_000011.8:g.17531274G>A NCBI36
NG_033191.1:g.10779G>A
NG_033191.2:g.10779G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.361G>A ENSP00000382323.2:p.Val121Met
ENST00000399397.6:c.325G>A MANE Select ENSP00000382329.2:p.Val109Met
ENST00000399391.6:c.361G>A ENSP00000382323.2:p.Val121Met
ENST00000399397.5:c.325G>A ENSP00000382329.2:p.Val109Met
ENST00000428619.1:c.142G>A ENSP00000399057.2:p.Val48Met
ENST00000498332.5:n.231G>A
NM_001277269.1:c.361G>A NP_001264198.1:p.Val121Met
NM_001292063.1:c.325G>A NP_001278992.1:p.Val109Met
NM_001277269.2:c.361G>A NP_001264198.1:p.Val121Met
NM_001292063.2:c.325G>A MANE Select NP_001278992.1:p.Val109Met