Canonical Allele Identifier: CA379811183
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553391A>T , CM000673.2:g.17553391A>T GRCh38
NC_000011.9:g.17574938A>T , CM000673.1:g.17574938A>T GRCh37
NC_000011.8:g.17531514A>T NCBI36
NG_033191.1:g.11019A>T
NG_033191.2:g.11019A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.448A>T ENSP00000382323.2:p.Ser150Cys
ENST00000399397.6:c.412A>T MANE Select ENSP00000382329.2:p.Ser138Cys
ENST00000399391.6:c.448A>T ENSP00000382323.2:p.Ser150Cys
ENST00000399397.5:c.412A>T ENSP00000382329.2:p.Ser138Cys
ENST00000428619.1:c.229A>T ENSP00000399057.2:p.Ser77Cys
ENST00000498332.5:n.318A>T
NM_001277269.1:c.448A>T NP_001264198.1:p.Ser150Cys
NM_001292063.1:c.412A>T NP_001278992.1:p.Ser138Cys
NM_001277269.2:c.448A>T NP_001264198.1:p.Ser150Cys
NM_001292063.2:c.412A>T MANE Select NP_001278992.1:p.Ser138Cys