Canonical Allele Identifier: CA379811095

Gene: OTOG

Linked Data

• dbSNP Id: rs1326389847
• gnomAD v2: 11-17574927-C-G
• gnomAD v3: 11-17553380-C-G
• gnomAD v4: 11-17553380-C-G
• MyVariant Identifiers: chr11:g.17574927C>G (hg19) ; chr11:g.17553380C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553380C>G , CM000673.2:g.17553380C>G	GRCh38
NC_000011.9:g.17574927C>G , CM000673.1:g.17574927C>G	GRCh37
NC_000011.8:g.17531503C>G	NCBI36
NG_033191.1:g.11008C>G
NG_033191.2:g.11008C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000399391.7:c.437C>G	ENSP00000382323.2:p.Pro146Arg
ENST00000399397.6:c.401C>G MANE Select	ENSP00000382329.2:p.Pro134Arg
ENST00000399391.6:c.437C>G	ENSP00000382323.2:p.Pro146Arg
ENST00000399397.5:c.401C>G	ENSP00000382329.2:p.Pro134Arg
ENST00000428619.1:c.218C>G	ENSP00000399057.2:p.Pro73Arg
ENST00000498332.5:n.307C>G
NM_001277269.1:c.437C>G	NP_001264198.1:p.Pro146Arg
NM_001292063.1:c.401C>G	NP_001278992.1:p.Pro134Arg
NM_001277269.2:c.437C>G	NP_001264198.1:p.Pro146Arg
NM_001292063.2:c.401C>G MANE Select	NP_001278992.1:p.Pro134Arg