Canonical Allele Identifier: CA379813028

Gene: OTOG

Linked Data

• dbSNP Id: rs1854233003
• MyVariant Identifiers: chr11:g.17656687T>C (hg19) ; chr11:g.17635140T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17635140T>C , CM000673.2:g.17635140T>C	GRCh38
NC_000011.9:g.17656687T>C , CM000673.1:g.17656687T>C	GRCh37
NC_000011.8:g.17613263T>C	NCBI36
NG_033191.1:g.92768T>C
NG_033191.2:g.92768T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7682T>C	ENSP00000382323.2:p.Leu2561Pro
ENST00000399397.6:c.7646T>C MANE Select	ENSP00000382329.2:p.Leu2549Pro
ENST00000342528.2:c.4322-470T>C	ENSP00000341666.2:n.4322-470T>C
ENST00000399391.6:c.7682T>C	ENSP00000382323.2:p.Leu2561Pro
ENST00000399397.5:c.7646T>C	ENSP00000382329.2:p.Leu2549Pro
NM_001277269.1:c.7682T>C	NP_001264198.1:p.Leu2561Pro
NM_001292063.1:c.7646T>C	NP_001278992.1:p.Leu2549Pro
NM_001277269.2:c.7682T>C	NP_001264198.1:p.Leu2561Pro
NM_001292063.2:c.7646T>C MANE Select	NP_001278992.1:p.Leu2549Pro