Canonical Allele Identifier: CA5905400

Gene: OTOG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17557227G>A , CM000673.2:g.17557227G>A	GRCh38
NC_000011.9:g.17578774G>A , CM000673.1:g.17578774G>A	GRCh37
NC_000011.8:g.17535350G>A	NCBI36
NG_033191.1:g.14855G>A
NG_033191.2:g.14855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.805G>A	ENSP00000382323.2:p.Val269Ile
ENST00000399397.6:c.769G>A MANE Select	ENSP00000382329.2:p.Val257Ile
ENST00000399391.6:c.805G>A	ENSP00000382323.2:p.Val269Ile
ENST00000399397.5:c.769G>A	ENSP00000382329.2:p.Val257Ile
ENST00000485669.1:n.308G>A
ENST00000498332.5:n.675G>A
NM_001277269.1:c.805G>A	NP_001264198.1:p.Val269Ile
NM_001292063.1:c.769G>A	NP_001278992.1:p.Val257Ile
NM_001277269.2:c.805G>A	NP_001264198.1:p.Val269Ile
NM_001292063.2:c.769G>A MANE Select	NP_001278992.1:p.Val257Ile