Canonical Allele Identifier: CA1955233099
Gene: OTOG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612729C= , CM000673.2:g.17612729C= GRCh38
NC_000011.9:g.17634276C= , CM000673.1:g.17634276C= GRCh37
NC_000011.8:g.17590852C= NCBI36
NG_033191.1:g.70357C=
NG_033191.2:g.70357C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6438C= ENSP00000382323.2:p.Leu2146=
ENST00000399397.6:c.6402C= MANE Select ENSP00000382329.2:p.Leu2134=
ENST00000342528.2:c.3456C= ENSP00000341666.2:p.Leu1152=
ENST00000399391.6:c.6438C= ENSP00000382323.2:p.Leu2146=
ENST00000399397.5:c.6402C= ENSP00000382329.2:p.Leu2134=
NM_001277269.1:c.6438C= NP_001264198.1:p.Leu2146=
NM_001292063.1:c.6402C= NP_001278992.1:p.Leu2134=
NM_001277269.2:c.6438C= NP_001264198.1:p.Leu2146=
NM_001292063.2:c.6402C= MANE Select NP_001278992.1:p.Leu2134=