Canonical Allele Identifier: CA1955236959
Gene: OTOG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17635154C= , CM000673.2:g.17635154C= GRCh38
NC_000011.9:g.17656701C= , CM000673.1:g.17656701C= GRCh37
NC_000011.8:g.17613277C= NCBI36
NG_033191.1:g.92782C=
NG_033191.2:g.92782C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7696C= ENSP00000382323.2:p.Leu2566=
ENST00000399397.6:c.7660C= MANE Select ENSP00000382329.2:p.Leu2554=
ENST00000342528.2:c.4322-456C= ENSP00000341666.2:n.4322-456C=
ENST00000399391.6:c.7696C= ENSP00000382323.2:p.Leu2566=
ENST00000399397.5:c.7660C= ENSP00000382329.2:p.Leu2554=
NM_001277269.1:c.7696C= NP_001264198.1:p.Leu2566=
NM_001292063.1:c.7660C= NP_001278992.1:p.Leu2554=
NM_001277269.2:c.7696C= NP_001264198.1:p.Leu2566=
NM_001292063.2:c.7660C= MANE Select NP_001278992.1:p.Leu2554=