Canonical Allele Identifier: CA218454668

Gene: OTOG

Linked Data

• dbSNP Id: rs922576336
• gnomAD v4: 11-17638535-C-T
• MyVariant Identifiers: chr11:g.17660082C>T (hg19) ; chr11:g.17638535C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17638535C>T , CM000673.2:g.17638535C>T	GRCh38
NC_000011.9:g.17660082C>T , CM000673.1:g.17660082C>T	GRCh37
NC_000011.8:g.17616658C>T	NCBI36
NG_033191.1:g.96163C>T
NG_033191.2:g.96163C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7916C>T	ENSP00000382323.2:p.Pro2639Leu
ENST00000399397.6:c.7880C>T MANE Select	ENSP00000382329.2:p.Pro2627Leu
ENST00000342528.2:c.4508C>T	ENSP00000341666.2:p.Pro1503Leu
ENST00000399391.6:c.7916C>T	ENSP00000382323.2:p.Pro2639Leu
ENST00000399397.5:c.7880C>T	ENSP00000382329.2:p.Pro2627Leu
NM_001277269.1:c.7916C>T	NP_001264198.1:p.Pro2639Leu
NM_001292063.1:c.7880C>T	NP_001278992.1:p.Pro2627Leu
NM_001277269.2:c.7916C>T	NP_001264198.1:p.Pro2639Leu
NM_001292063.2:c.7880C>T MANE Select	NP_001278992.1:p.Pro2627Leu