Canonical Allele Identifier: CA2841250661
Gene: OTOG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553280C>T , CM000673.2:g.17553280C>T GRCh38
NC_000011.9:g.17574827C>T , CM000673.1:g.17574827C>T GRCh37
NC_000011.8:g.17531403C>T NCBI36
NG_033191.1:g.10908C>T
NG_033191.2:g.10908C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.421+69C>T ENSP00000382323.2:n.421+69C>T
ENST00000399397.6:c.385+69C>T MANE Select ENSP00000382329.2:n.385+69C>T
ENST00000399391.6:c.421+69C>T ENSP00000382323.2:n.421+69C>T
ENST00000399397.5:c.385+69C>T ENSP00000382329.2:n.385+69C>T
ENST00000428619.1:c.202+69C>T ENSP00000399057.2:n.202+69C>T
ENST00000498332.5:n.291+69C>T
NM_001277269.1:c.421+69C>T NP_001264198.1:n.421+69C>T
NM_001292063.1:c.385+69C>T NP_001278992.1:n.385+69C>T
NM_001277269.2:c.421+69C>T NP_001264198.1:n.421+69C>T
NM_001292063.2:c.385+69C>T MANE Select NP_001278992.1:n.385+69C>T