Canonical Allele Identifier: CA379812949
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17635104C>G , CM000673.2:g.17635104C>G GRCh38
NC_000011.9:g.17656651C>G , CM000673.1:g.17656651C>G GRCh37
NC_000011.8:g.17613227C>G NCBI36
NG_033191.1:g.92732C>G
NG_033191.2:g.92732C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7646C>G ENSP00000382323.2:p.Ala2549Gly
ENST00000399397.6:c.7610C>G MANE Select ENSP00000382329.2:p.Ala2537Gly
ENST00000342528.2:c.4322-506C>G ENSP00000341666.2:n.4322-506C>G
ENST00000399391.6:c.7646C>G ENSP00000382323.2:p.Ala2549Gly
ENST00000399397.5:c.7610C>G ENSP00000382329.2:p.Ala2537Gly
NM_001277269.1:c.7646C>G NP_001264198.1:p.Ala2549Gly
NM_001292063.1:c.7610C>G NP_001278992.1:p.Ala2537Gly
NM_001277269.2:c.7646C>G NP_001264198.1:p.Ala2549Gly
NM_001292063.2:c.7610C>G MANE Select NP_001278992.1:p.Ala2537Gly