Canonical Allele Identifier: CA379812738
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17634918G>C , CM000673.2:g.17634918G>C GRCh38
NC_000011.9:g.17656465G>C , CM000673.1:g.17656465G>C GRCh37
NC_000011.8:g.17613041G>C NCBI36
NG_033191.1:g.92546G>C
NG_033191.2:g.92546G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7591G>C ENSP00000382323.2:p.Glu2531Gln
ENST00000399397.6:c.7555G>C MANE Select ENSP00000382329.2:p.Glu2519Gln
ENST00000342528.2:c.4322-692G>C ENSP00000341666.2:n.4322-692G>C
ENST00000399391.6:c.7591G>C ENSP00000382323.2:p.Glu2531Gln
ENST00000399397.5:c.7555G>C ENSP00000382329.2:p.Glu2519Gln
NM_001277269.1:c.7591G>C NP_001264198.1:p.Glu2531Gln
NM_001292063.1:c.7555G>C NP_001278992.1:p.Glu2519Gln
NM_001277269.2:c.7591G>C NP_001264198.1:p.Glu2531Gln
NM_001292063.2:c.7555G>C MANE Select NP_001278992.1:p.Glu2519Gln