Canonical Allele Identifier: CA379811811
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553492G>T , CM000673.2:g.17553492G>T GRCh38
NC_000011.9:g.17575039G>T , CM000673.1:g.17575039G>T GRCh37
NC_000011.8:g.17531615G>T NCBI36
NG_033191.1:g.11120G>T
NG_033191.2:g.11120G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.549G>T ENSP00000382323.2:p.Glu183Asp
ENST00000399397.6:c.513G>T MANE Select ENSP00000382329.2:p.Glu171Asp
ENST00000399391.6:c.549G>T ENSP00000382323.2:p.Glu183Asp
ENST00000399397.5:c.513G>T ENSP00000382329.2:p.Glu171Asp
ENST00000498332.5:n.419G>T
NM_001277269.1:c.549G>T NP_001264198.1:p.Glu183Asp
NM_001292063.1:c.513G>T NP_001278992.1:p.Glu171Asp
NM_001277269.2:c.549G>T NP_001264198.1:p.Glu183Asp
NM_001292063.2:c.513G>T MANE Select NP_001278992.1:p.Glu171Asp