Canonical Allele Identifier: CA379813032
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17635142A>G , CM000673.2:g.17635142A>G GRCh38
NC_000011.9:g.17656689A>G , CM000673.1:g.17656689A>G GRCh37
NC_000011.8:g.17613265A>G NCBI36
NG_033191.1:g.92770A>G
NG_033191.2:g.92770A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7684A>G ENSP00000382323.2:p.Ile2562Val
ENST00000399397.6:c.7648A>G MANE Select ENSP00000382329.2:p.Ile2550Val
ENST00000342528.2:c.4322-468A>G ENSP00000341666.2:n.4322-468A>G
ENST00000399391.6:c.7684A>G ENSP00000382323.2:p.Ile2562Val
ENST00000399397.5:c.7648A>G ENSP00000382329.2:p.Ile2550Val
NM_001277269.1:c.7684A>G NP_001264198.1:p.Ile2562Val
NM_001292063.1:c.7648A>G NP_001278992.1:p.Ile2550Val
NM_001277269.2:c.7684A>G NP_001264198.1:p.Ile2562Val
NM_001292063.2:c.7648A>G MANE Select NP_001278992.1:p.Ile2550Val