Canonical Allele Identifier: CA2612679401

Gene: OTOG

Linked Data

• gnomAD v4: 11-17553280-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553280C>A , CM000673.2:g.17553280C>A	GRCh38
NC_000011.9:g.17574827C>A , CM000673.1:g.17574827C>A	GRCh37
NC_000011.8:g.17531403C>A	NCBI36
NG_033191.1:g.10908C>A
NG_033191.2:g.10908C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.421+69C>A	ENSP00000382323.2:n.421+69C>A
ENST00000399397.6:c.385+69C>A MANE Select	ENSP00000382329.2:n.385+69C>A
ENST00000399391.6:c.421+69C>A	ENSP00000382323.2:n.421+69C>A
ENST00000399397.5:c.385+69C>A	ENSP00000382329.2:n.385+69C>A
ENST00000428619.1:c.202+69C>A	ENSP00000399057.2:n.202+69C>A
ENST00000498332.5:n.291+69C>A
NM_001277269.1:c.421+69C>A	NP_001264198.1:n.421+69C>A
NM_001292063.1:c.385+69C>A	NP_001278992.1:n.385+69C>A
NM_001277269.2:c.421+69C>A	NP_001264198.1:n.421+69C>A
NM_001292063.2:c.385+69C>A MANE Select	NP_001278992.1:n.385+69C>A