Canonical Allele Identifier: CA379811284
Gene: OTOG HGNC NCBI

Linked Data

dbSNP Id: rs1260721968

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553401G>C , CM000673.2:g.17553401G>C GRCh38
NC_000011.9:g.17574948G>C , CM000673.1:g.17574948G>C GRCh37
NC_000011.8:g.17531524G>C NCBI36
NG_033191.1:g.11029G>C
NG_033191.2:g.11029G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.458G>C ENSP00000382323.2:p.Arg153Pro
ENST00000399397.6:c.422G>C MANE Select ENSP00000382329.2:p.Arg141Pro
ENST00000399391.6:c.458G>C ENSP00000382323.2:p.Arg153Pro
ENST00000399397.5:c.422G>C ENSP00000382329.2:p.Arg141Pro
ENST00000428619.1:c.239G>C ENSP00000399057.2:p.Arg80Pro
ENST00000498332.5:n.328G>C
NM_001277269.1:c.458G>C NP_001264198.1:p.Arg153Pro
NM_001292063.1:c.422G>C NP_001278992.1:p.Arg141Pro
NM_001277269.2:c.458G>C NP_001264198.1:p.Arg153Pro
NM_001292063.2:c.422G>C MANE Select NP_001278992.1:p.Arg141Pro