Canonical Allele Identifier: CA379813114
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17635181T>C , CM000673.2:g.17635181T>C GRCh38
NC_000011.9:g.17656728T>C , CM000673.1:g.17656728T>C GRCh37
NC_000011.8:g.17613304T>C NCBI36
NG_033191.1:g.92809T>C
NG_033191.2:g.92809T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7723T>C ENSP00000382323.2:p.Phe2575Leu
ENST00000399397.6:c.7687T>C MANE Select ENSP00000382329.2:p.Phe2563Leu
ENST00000342528.2:c.4322-429T>C ENSP00000341666.2:n.4322-429T>C
ENST00000399391.6:c.7723T>C ENSP00000382323.2:p.Phe2575Leu
ENST00000399397.5:c.7687T>C ENSP00000382329.2:p.Phe2563Leu
NM_001277269.1:c.7723T>C NP_001264198.1:p.Phe2575Leu
NM_001292063.1:c.7687T>C NP_001278992.1:p.Phe2563Leu
NM_001277269.2:c.7723T>C NP_001264198.1:p.Phe2575Leu
NM_001292063.2:c.7687T>C MANE Select NP_001278992.1:p.Phe2563Leu