Canonical Allele Identifier: CA379811075
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553376G>T , CM000673.2:g.17553376G>T GRCh38
NC_000011.9:g.17574923G>T , CM000673.1:g.17574923G>T GRCh37
NC_000011.8:g.17531499G>T NCBI36
NG_033191.1:g.11004G>T
NG_033191.2:g.11004G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.433G>T ENSP00000382323.2:p.Gly145Cys
ENST00000399397.6:c.397G>T MANE Select ENSP00000382329.2:p.Gly133Cys
ENST00000399391.6:c.433G>T ENSP00000382323.2:p.Gly145Cys
ENST00000399397.5:c.397G>T ENSP00000382329.2:p.Gly133Cys
ENST00000428619.1:c.214G>T ENSP00000399057.2:p.Gly72Cys
ENST00000498332.5:n.303G>T
NM_001277269.1:c.433G>T NP_001264198.1:p.Gly145Cys
NM_001292063.1:c.397G>T NP_001278992.1:p.Gly133Cys
NM_001277269.2:c.433G>T NP_001264198.1:p.Gly145Cys
NM_001292063.2:c.397G>T MANE Select NP_001278992.1:p.Gly133Cys