Canonical Allele Identifier: CA379810621
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553155A>C , CM000673.2:g.17553155A>C GRCh38
NC_000011.9:g.17574702A>C , CM000673.1:g.17574702A>C GRCh37
NC_000011.8:g.17531278A>C NCBI36
NG_033191.1:g.10783A>C
NG_033191.2:g.10783A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.365A>C ENSP00000382323.2:p.His122Pro
ENST00000399397.6:c.329A>C MANE Select ENSP00000382329.2:p.His110Pro
ENST00000399391.6:c.365A>C ENSP00000382323.2:p.His122Pro
ENST00000399397.5:c.329A>C ENSP00000382329.2:p.His110Pro
ENST00000428619.1:c.146A>C ENSP00000399057.2:p.His49Pro
ENST00000498332.5:n.235A>C
NM_001277269.1:c.365A>C NP_001264198.1:p.His122Pro
NM_001292063.1:c.329A>C NP_001278992.1:p.His110Pro
NM_001277269.2:c.365A>C NP_001264198.1:p.His122Pro
NM_001292063.2:c.329A>C MANE Select NP_001278992.1:p.His110Pro