Canonical Allele Identifier: CA379811111

Gene: OTOG

Linked Data

• gnomAD v4: 11-17553383-A-G
• MyVariant Identifiers: chr11:g.17574930A>G (hg19) ; chr11:g.17553383A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553383A>G , CM000673.2:g.17553383A>G	GRCh38
NC_000011.9:g.17574930A>G , CM000673.1:g.17574930A>G	GRCh37
NC_000011.8:g.17531506A>G	NCBI36
NG_033191.1:g.11011A>G
NG_033191.2:g.11011A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.440A>G	ENSP00000382323.2:p.Glu147Gly
ENST00000399397.6:c.404A>G MANE Select	ENSP00000382329.2:p.Glu135Gly
ENST00000399391.6:c.440A>G	ENSP00000382323.2:p.Glu147Gly
ENST00000399397.5:c.404A>G	ENSP00000382329.2:p.Glu135Gly
ENST00000428619.1:c.221A>G	ENSP00000399057.2:p.Glu74Gly
ENST00000498332.5:n.310A>G
NM_001277269.1:c.440A>G	NP_001264198.1:p.Glu147Gly
NM_001292063.1:c.404A>G	NP_001278992.1:p.Glu135Gly
NM_001277269.2:c.440A>G	NP_001264198.1:p.Glu147Gly
NM_001292063.2:c.404A>G MANE Select	NP_001278992.1:p.Glu135Gly