Canonical Allele Identifier: CA218498996

Gene: OTOG

Linked Data

• dbSNP Id: rs940873345
• gnomAD v2: 11-17656664-C-T
• gnomAD v3: 11-17635117-C-T
• gnomAD v4: 11-17635117-C-T
• MyVariant Identifiers: chr11:g.17656664C>T (hg19) ; chr11:g.17635117C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17635117C>T , CM000673.2:g.17635117C>T	GRCh38
NC_000011.9:g.17656664C>T , CM000673.1:g.17656664C>T	GRCh37
NC_000011.8:g.17613240C>T	NCBI36
NG_033191.1:g.92745C>T
NG_033191.2:g.92745C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7659C>T	ENSP00000382323.2:p.Pro2553=
ENST00000399397.6:c.7623C>T MANE Select	ENSP00000382329.2:p.Pro2541=
ENST00000342528.2:c.4322-493C>T	ENSP00000341666.2:n.4322-493C>T
ENST00000399391.6:c.7659C>T	ENSP00000382323.2:p.Pro2553=
ENST00000399397.5:c.7623C>T	ENSP00000382329.2:p.Pro2541=
NM_001277269.1:c.7659C>T	NP_001264198.1:p.Pro2553=
NM_001292063.1:c.7623C>T	NP_001278992.1:p.Pro2541=
NM_001277269.2:c.7659C>T	NP_001264198.1:p.Pro2553=
NM_001292063.2:c.7623C>T MANE Select	NP_001278992.1:p.Pro2541=