Canonical Allele Identifier: CA1955233060
Gene: OTOG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612643C= , CM000673.2:g.17612643C= GRCh38
NC_000011.9:g.17634190C= , CM000673.1:g.17634190C= GRCh37
NC_000011.8:g.17590766C= NCBI36
NG_033191.1:g.70271C=
NG_033191.2:g.70271C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6352C= ENSP00000382323.2:p.Leu2118=
ENST00000399397.6:c.6316C= MANE Select ENSP00000382329.2:p.Leu2106=
ENST00000342528.2:c.3370C= ENSP00000341666.2:p.Leu1124=
ENST00000399391.6:c.6352C= ENSP00000382323.2:p.Leu2118=
ENST00000399397.5:c.6316C= ENSP00000382329.2:p.Leu2106=
NM_001277269.1:c.6352C= NP_001264198.1:p.Leu2118=
NM_001292063.1:c.6316C= NP_001278992.1:p.Leu2106=
NM_001277269.2:c.6352C= NP_001264198.1:p.Leu2118=
NM_001292063.2:c.6316C= MANE Select NP_001278992.1:p.Leu2106=