Canonical Allele Identifier: CA379811657
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553460A>G , CM000673.2:g.17553460A>G GRCh38
NC_000011.9:g.17575007A>G , CM000673.1:g.17575007A>G GRCh37
NC_000011.8:g.17531583A>G NCBI36
NG_033191.1:g.11088A>G
NG_033191.2:g.11088A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.517A>G ENSP00000382323.2:p.Lys173Glu
ENST00000399397.6:c.481A>G MANE Select ENSP00000382329.2:p.Lys161Glu
ENST00000399391.6:c.517A>G ENSP00000382323.2:p.Lys173Glu
ENST00000399397.5:c.481A>G ENSP00000382329.2:p.Lys161Glu
ENST00000498332.5:n.387A>G
NM_001277269.1:c.517A>G NP_001264198.1:p.Lys173Glu
NM_001292063.1:c.481A>G NP_001278992.1:p.Lys161Glu
NM_001277269.2:c.517A>G NP_001264198.1:p.Lys173Glu
NM_001292063.2:c.481A>G MANE Select NP_001278992.1:p.Lys161Glu