Canonical Allele Identifier: CA2612690419

Gene: OTOG

Linked Data

• gnomAD v4: 11-17635322-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17635322C>A , CM000673.2:g.17635322C>A	GRCh38
NC_000011.9:g.17656869C>A , CM000673.1:g.17656869C>A	GRCh37
NC_000011.8:g.17613445C>A	NCBI36
NG_033191.1:g.92950C>A
NG_033191.2:g.92950C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7729+135C>A	ENSP00000382323.2:n.7729+135C>A
ENST00000399397.6:c.7693+135C>A MANE Select	ENSP00000382329.2:n.7693+135C>A
ENST00000342528.2:c.4322-288C>A	ENSP00000341666.2:n.4322-288C>A
ENST00000399391.6:c.7729+135C>A	ENSP00000382323.2:n.7729+135C>A
ENST00000399397.5:c.7693+135C>A	ENSP00000382329.2:n.7693+135C>A
NM_001277269.1:c.7729+135C>A	NP_001264198.1:n.7729+135C>A
NM_001292063.1:c.7693+135C>A	NP_001278992.1:n.7693+135C>A
NM_001277269.2:c.7729+135C>A	NP_001264198.1:n.7729+135C>A
NM_001292063.2:c.7693+135C>A MANE Select	NP_001278992.1:n.7693+135C>A