Canonical Allele Identifier: CA379811798

Gene: OTOG

Linked Data

• gnomAD v4: 11-17553487-C-G
• MyVariant Identifiers: chr11:g.17575034C>G (hg19) ; chr11:g.17553487C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553487C>G , CM000673.2:g.17553487C>G	GRCh38
NC_000011.9:g.17575034C>G , CM000673.1:g.17575034C>G	GRCh37
NC_000011.8:g.17531610C>G	NCBI36
NG_033191.1:g.11115C>G
NG_033191.2:g.11115C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000399391.7:c.544C>G	ENSP00000382323.2:p.His182Asp
ENST00000399397.6:c.508C>G MANE Select	ENSP00000382329.2:p.His170Asp
ENST00000399391.6:c.544C>G	ENSP00000382323.2:p.His182Asp
ENST00000399397.5:c.508C>G	ENSP00000382329.2:p.His170Asp
ENST00000498332.5:n.414C>G
NM_001277269.1:c.544C>G	NP_001264198.1:p.His182Asp
NM_001292063.1:c.508C>G	NP_001278992.1:p.His170Asp
NM_001277269.2:c.544C>G	NP_001264198.1:p.His182Asp
NM_001292063.2:c.508C>G MANE Select	NP_001278992.1:p.His170Asp