Canonical Allele Identifier: CA379811429

Gene: OTOG

Linked Data

• gnomAD v4: 11-17553420-C-A
• MyVariant Identifiers: chr11:g.17574967C>A (hg19) ; chr11:g.17553420C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553420C>A , CM000673.2:g.17553420C>A	GRCh38
NC_000011.9:g.17574967C>A , CM000673.1:g.17574967C>A	GRCh37
NC_000011.8:g.17531543C>A	NCBI36
NG_033191.1:g.11048C>A
NG_033191.2:g.11048C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.477C>A	ENSP00000382323.2:p.His159Gln
ENST00000399397.6:c.441C>A MANE Select	ENSP00000382329.2:p.His147Gln
ENST00000399391.6:c.477C>A	ENSP00000382323.2:p.His159Gln
ENST00000399397.5:c.441C>A	ENSP00000382329.2:p.His147Gln
ENST00000428619.1:c.258C>A	ENSP00000399057.2:p.His86Gln
ENST00000498332.5:n.347C>A
NM_001277269.1:c.477C>A	NP_001264198.1:p.His159Gln
NM_001292063.1:c.441C>A	NP_001278992.1:p.His147Gln
NM_001277269.2:c.477C>A	NP_001264198.1:p.His159Gln
NM_001292063.2:c.441C>A MANE Select	NP_001278992.1:p.His147Gln