Canonical Allele Identifier: CA379811704
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553468C>G , CM000673.2:g.17553468C>G GRCh38
NC_000011.9:g.17575015C>G , CM000673.1:g.17575015C>G GRCh37
NC_000011.8:g.17531591C>G NCBI36
NG_033191.1:g.11096C>G
NG_033191.2:g.11096C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.525C>G ENSP00000382323.2:p.Ser175Arg
ENST00000399397.6:c.489C>G MANE Select ENSP00000382329.2:p.Ser163Arg
ENST00000399391.6:c.525C>G ENSP00000382323.2:p.Ser175Arg
ENST00000399397.5:c.489C>G ENSP00000382329.2:p.Ser163Arg
ENST00000498332.5:n.395C>G
NM_001277269.1:c.525C>G NP_001264198.1:p.Ser175Arg
NM_001292063.1:c.489C>G NP_001278992.1:p.Ser163Arg
NM_001277269.2:c.525C>G NP_001264198.1:p.Ser175Arg
NM_001292063.2:c.489C>G MANE Select NP_001278992.1:p.Ser163Arg