Canonical Allele Identifier: CA379811180
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000399391.7:c.448A>C ENSP00000382323.2:p.Ser150Arg
ENST00000399397.6:c.412A>C MANE Select ENSP00000382329.2:p.Ser138Arg
ENST00000399391.6:c.448A>C ENSP00000382323.2:p.Ser150Arg
ENST00000399397.5:c.412A>C ENSP00000382329.2:p.Ser138Arg
ENST00000428619.1:c.229A>C ENSP00000399057.2:p.Ser77Arg
ENST00000498332.5:n.318A>C
NM_001277269.1:c.448A>C NP_001264198.1:p.Ser150Arg
NM_001292063.1:c.412A>C NP_001278992.1:p.Ser138Arg
NM_001277269.2:c.448A>C NP_001264198.1:p.Ser150Arg
NM_001292063.2:c.412A>C MANE Select NP_001278992.1:p.Ser138Arg