Canonical Allele Identifier: CA379804455
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612709C>G , CM000673.2:g.17612709C>G GRCh38
NC_000011.9:g.17634256C>G , CM000673.1:g.17634256C>G GRCh37
NC_000011.8:g.17590832C>G NCBI36
NG_033191.1:g.70337C>G
NG_033191.2:g.70337C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6418C>G ENSP00000382323.2:p.Gln2140Glu
ENST00000399397.6:c.6382C>G MANE Select ENSP00000382329.2:p.Gln2128Glu
ENST00000342528.2:c.3436C>G ENSP00000341666.2:p.Gln1146Glu
ENST00000399391.6:c.6418C>G ENSP00000382323.2:p.Gln2140Glu
ENST00000399397.5:c.6382C>G ENSP00000382329.2:p.Gln2128Glu
NM_001277269.1:c.6418C>G NP_001264198.1:p.Gln2140Glu
NM_001292063.1:c.6382C>G NP_001278992.1:p.Gln2128Glu
NM_001277269.2:c.6418C>G NP_001264198.1:p.Gln2140Glu
NM_001292063.2:c.6382C>G MANE Select NP_001278992.1:p.Gln2128Glu