Canonical Allele Identifier: CA379810568
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553147G>C , CM000673.2:g.17553147G>C GRCh38
NC_000011.9:g.17574694G>C , CM000673.1:g.17574694G>C GRCh37
NC_000011.8:g.17531270G>C NCBI36
NG_033191.1:g.10775G>C
NG_033191.2:g.10775G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.357G>C ENSP00000382323.2:p.Glu119Asp
ENST00000399397.6:c.321G>C MANE Select ENSP00000382329.2:p.Glu107Asp
ENST00000399391.6:c.357G>C ENSP00000382323.2:p.Glu119Asp
ENST00000399397.5:c.321G>C ENSP00000382329.2:p.Glu107Asp
ENST00000428619.1:c.138G>C ENSP00000399057.2:p.Glu46Asp
ENST00000498332.5:n.227G>C
NM_001277269.1:c.357G>C NP_001264198.1:p.Glu119Asp
NM_001292063.1:c.321G>C NP_001278992.1:p.Glu107Asp
NM_001277269.2:c.357G>C NP_001264198.1:p.Glu119Asp
NM_001292063.2:c.321G>C MANE Select NP_001278992.1:p.Glu107Asp