Canonical Allele Identifier: CA473310890

Gene: OTOG

Linked Data

• gnomAD v4: 11-17635081-G-A
• MyVariant Identifiers: chr11:g.17656628G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17635081G>A , CM000673.2:g.17635081G>A	GRCh38
NC_000011.9:g.17656628G>A , CM000673.1:g.17656628G>A	GRCh37
NC_000011.8:g.17613204G>A	NCBI36
NG_033191.1:g.92709G>A
NG_033191.2:g.92709G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7623G>A	ENSP00000382323.2:p.Glu2541=
ENST00000399397.6:c.7587G>A MANE Select	ENSP00000382329.2:p.Glu2529=
ENST00000342528.2:c.4322-529G>A	ENSP00000341666.2:n.4322-529G>A
ENST00000399391.6:c.7623G>A	ENSP00000382323.2:p.Glu2541=
ENST00000399397.5:c.7587G>A	ENSP00000382329.2:p.Glu2529=
NM_001277269.1:c.7623G>A	NP_001264198.1:p.Glu2541=
NM_001292063.1:c.7587G>A	NP_001278992.1:p.Glu2529=
NM_001277269.2:c.7623G>A	NP_001264198.1:p.Glu2541=
NM_001292063.2:c.7587G>A MANE Select	NP_001278992.1:p.Glu2529=