Canonical Allele Identifier: CA379810745
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553171C>G , CM000673.2:g.17553171C>G GRCh38
NC_000011.9:g.17574718C>G , CM000673.1:g.17574718C>G GRCh37
NC_000011.8:g.17531294C>G NCBI36
NG_033191.1:g.10799C>G
NG_033191.2:g.10799C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.381C>G ENSP00000382323.2:p.Asp127Glu
ENST00000399397.6:c.345C>G MANE Select ENSP00000382329.2:p.Asp115Glu
ENST00000399391.6:c.381C>G ENSP00000382323.2:p.Asp127Glu
ENST00000399397.5:c.345C>G ENSP00000382329.2:p.Asp115Glu
ENST00000428619.1:c.162C>G ENSP00000399057.2:p.Asp54Glu
ENST00000498332.5:n.251C>G
NM_001277269.1:c.381C>G NP_001264198.1:p.Asp127Glu
NM_001292063.1:c.345C>G NP_001278992.1:p.Asp115Glu
NM_001277269.2:c.381C>G NP_001264198.1:p.Asp127Glu
NM_001292063.2:c.345C>G MANE Select NP_001278992.1:p.Asp115Glu