Canonical Allele Identifier: CA379781413

Gene: OTOG

Linked Data

• gnomAD v4: 11-17638544-C-A
• MyVariant Identifiers: chr11:g.17660091C>A (hg19) ; chr11:g.17638544C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17638544C>A , CM000673.2:g.17638544C>A	GRCh38
NC_000011.9:g.17660091C>A , CM000673.1:g.17660091C>A	GRCh37
NC_000011.8:g.17616667C>A	NCBI36
NG_033191.1:g.96172C>A
NG_033191.2:g.96172C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7925C>A	ENSP00000382323.2:p.Ser2642Tyr
ENST00000399397.6:c.7889C>A MANE Select	ENSP00000382329.2:p.Ser2630Tyr
ENST00000342528.2:c.4517C>A	ENSP00000341666.2:p.Ser1506Tyr
ENST00000399391.6:c.7925C>A	ENSP00000382323.2:p.Ser2642Tyr
ENST00000399397.5:c.7889C>A	ENSP00000382329.2:p.Ser2630Tyr
NM_001277269.1:c.7925C>A	NP_001264198.1:p.Ser2642Tyr
NM_001292063.1:c.7889C>A	NP_001278992.1:p.Ser2630Tyr
NM_001277269.2:c.7925C>A	NP_001264198.1:p.Ser2642Tyr
NM_001292063.2:c.7889C>A MANE Select	NP_001278992.1:p.Ser2630Tyr