Canonical Allele Identifier: CA379810655
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553160G>A , CM000673.2:g.17553160G>A GRCh38
NC_000011.9:g.17574707G>A , CM000673.1:g.17574707G>A GRCh37
NC_000011.8:g.17531283G>A NCBI36
NG_033191.1:g.10788G>A
NG_033191.2:g.10788G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.370G>A ENSP00000382323.2:p.Ala124Thr
ENST00000399397.6:c.334G>A MANE Select ENSP00000382329.2:p.Ala112Thr
ENST00000399391.6:c.370G>A ENSP00000382323.2:p.Ala124Thr
ENST00000399397.5:c.334G>A ENSP00000382329.2:p.Ala112Thr
ENST00000428619.1:c.151G>A ENSP00000399057.2:p.Ala51Thr
ENST00000498332.5:n.240G>A
NM_001277269.1:c.370G>A NP_001264198.1:p.Ala124Thr
NM_001292063.1:c.334G>A NP_001278992.1:p.Ala112Thr
NM_001277269.2:c.370G>A NP_001264198.1:p.Ala124Thr
NM_001292063.2:c.334G>A MANE Select NP_001278992.1:p.Ala112Thr