Canonical Allele Identifier: CA379783523
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17594050C>G , CM000673.2:g.17594050C>G GRCh38
NC_000011.9:g.17615597C>G , CM000673.1:g.17615597C>G GRCh37
NC_000011.8:g.17572173C>G NCBI36
NG_033191.1:g.51678C>G
NG_033191.2:g.51678C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000399391.7:c.3328C>G ENSP00000382323.2:p.Gln1110Glu
ENST00000399397.6:c.3292C>G MANE Select ENSP00000382329.2:p.Gln1098Glu
ENST00000342528.2:c.373C>G ENSP00000341666.2:p.Gln125Glu
ENST00000399391.6:c.3328C>G ENSP00000382323.2:p.Gln1110Glu
ENST00000399397.5:c.3292C>G ENSP00000382329.2:p.Gln1098Glu
NM_001277269.1:c.3328C>G NP_001264198.1:p.Gln1110Glu
NM_001292063.1:c.3292C>G NP_001278992.1:p.Gln1098Glu
NM_001277269.2:c.3328C>G NP_001264198.1:p.Gln1110Glu
NM_001292063.2:c.3292C>G MANE Select NP_001278992.1:p.Gln1098Glu