Canonical Allele Identifier: CA379811171
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553390C>A , CM000673.2:g.17553390C>A GRCh38
NC_000011.9:g.17574937C>A , CM000673.1:g.17574937C>A GRCh37
NC_000011.8:g.17531513C>A NCBI36
NG_033191.1:g.11018C>A
NG_033191.2:g.11018C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.447C>A ENSP00000382323.2:p.Asp149Glu
ENST00000399397.6:c.411C>A MANE Select ENSP00000382329.2:p.Asp137Glu
ENST00000399391.6:c.447C>A ENSP00000382323.2:p.Asp149Glu
ENST00000399397.5:c.411C>A ENSP00000382329.2:p.Asp137Glu
ENST00000428619.1:c.228C>A ENSP00000399057.2:p.Asp76Glu
ENST00000498332.5:n.317C>A
NM_001277269.1:c.447C>A NP_001264198.1:p.Asp149Glu
NM_001292063.1:c.411C>A NP_001278992.1:p.Asp137Glu
NM_001277269.2:c.447C>A NP_001264198.1:p.Asp149Glu
NM_001292063.2:c.411C>A MANE Select NP_001278992.1:p.Asp137Glu