Canonical Allele Identifier: CA5905386

Gene: OTOG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17555920C>A , CM000673.2:g.17555920C>A	GRCh38
NC_000011.9:g.17577467C>A , CM000673.1:g.17577467C>A	GRCh37
NC_000011.8:g.17534043C>A	NCBI36
NG_033191.1:g.13548C>A
NG_033191.2:g.13548C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001292063.2:c.659+23C>A MANE Select	NP_001278992.1:n.659+23C>A
ENST00000399397.6:c.659+23C>A MANE Select	ENSP00000382329.2:n.659+23C>A
NM_001277269.1:c.695+23C>A	NP_001264198.1:n.695+23C>A
NM_001277269.2:c.695+23C>A	NP_001264198.1:n.695+23C>A
NM_001292063.1:c.659+23C>A	NP_001278992.1:n.659+23C>A
ENST00000399391.6:c.695+23C>A	ENSP00000382323.2:n.695+23C>A
ENST00000399391.7:c.695+23C>A	ENSP00000382323.2:n.695+23C>A
ENST00000399397.5:c.659+23C>A	ENSP00000382329.2:n.659+23C>A
ENST00000485669.1:n.198+23C>A
ENST00000498332.5:n.565+23C>A