Canonical Allele Identifier: CA379811249
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553397T>G , CM000673.2:g.17553397T>G GRCh38
NC_000011.9:g.17574944T>G , CM000673.1:g.17574944T>G GRCh37
NC_000011.8:g.17531520T>G NCBI36
NG_033191.1:g.11025T>G
NG_033191.2:g.11025T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.454T>G ENSP00000382323.2:p.Cys152Gly
ENST00000399397.6:c.418T>G MANE Select ENSP00000382329.2:p.Cys140Gly
ENST00000399391.6:c.454T>G ENSP00000382323.2:p.Cys152Gly
ENST00000399397.5:c.418T>G ENSP00000382329.2:p.Cys140Gly
ENST00000428619.1:c.235T>G ENSP00000399057.2:p.Cys79Gly
ENST00000498332.5:n.324T>G
NM_001277269.1:c.454T>G NP_001264198.1:p.Cys152Gly
NM_001292063.1:c.418T>G NP_001278992.1:p.Cys140Gly
NM_001277269.2:c.454T>G NP_001264198.1:p.Cys152Gly
NM_001292063.2:c.418T>G MANE Select NP_001278992.1:p.Cys140Gly