Canonical Allele Identifier: CA379811791
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553482G>T , CM000673.2:g.17553482G>T GRCh38
NC_000011.9:g.17575029G>T , CM000673.1:g.17575029G>T GRCh37
NC_000011.8:g.17531605G>T NCBI36
NG_033191.1:g.11110G>T
NG_033191.2:g.11110G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.539G>T ENSP00000382323.2:p.Gly180Val
ENST00000399397.6:c.503G>T MANE Select ENSP00000382329.2:p.Gly168Val
ENST00000399391.6:c.539G>T ENSP00000382323.2:p.Gly180Val
ENST00000399397.5:c.503G>T ENSP00000382329.2:p.Gly168Val
ENST00000498332.5:n.409G>T
NM_001277269.1:c.539G>T NP_001264198.1:p.Gly180Val
NM_001292063.1:c.503G>T NP_001278992.1:p.Gly168Val
NM_001277269.2:c.539G>T NP_001264198.1:p.Gly180Val
NM_001292063.2:c.503G>T MANE Select NP_001278992.1:p.Gly168Val