Canonical Allele Identifier: CA379810866
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553185A>T , CM000673.2:g.17553185A>T GRCh38
NC_000011.9:g.17574732A>T , CM000673.1:g.17574732A>T GRCh37
NC_000011.8:g.17531308A>T NCBI36
NG_033191.1:g.10813A>T
NG_033191.2:g.10813A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.395A>T ENSP00000382323.2:p.Asn132Ile
ENST00000399397.6:c.359A>T MANE Select ENSP00000382329.2:p.Asn120Ile
ENST00000399391.6:c.395A>T ENSP00000382323.2:p.Asn132Ile
ENST00000399397.5:c.359A>T ENSP00000382329.2:p.Asn120Ile
ENST00000428619.1:c.176A>T ENSP00000399057.2:p.Asn59Ile
ENST00000498332.5:n.265A>T
NM_001277269.1:c.395A>T NP_001264198.1:p.Asn132Ile
NM_001292063.1:c.359A>T NP_001278992.1:p.Asn120Ile
NM_001277269.2:c.395A>T NP_001264198.1:p.Asn132Ile
NM_001292063.2:c.359A>T MANE Select NP_001278992.1:p.Asn120Ile