Canonical Allele Identifier: CA379810569

Gene: OTOG

Linked Data

• gnomAD v4: 11-17553147-G-T
• COSMIC: COSM6313869 ; COSM6313870
• MyVariant Identifiers: chr11:g.17574694G>T (hg19) ; chr11:g.17553147G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553147G>T , CM000673.2:g.17553147G>T	GRCh38
NC_000011.9:g.17574694G>T , CM000673.1:g.17574694G>T	GRCh37
NC_000011.8:g.17531270G>T	NCBI36
NG_033191.1:g.10775G>T
NG_033191.2:g.10775G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.357G>T	ENSP00000382323.2:p.Glu119Asp
ENST00000399397.6:c.321G>T MANE Select	ENSP00000382329.2:p.Glu107Asp
ENST00000399391.6:c.357G>T	ENSP00000382323.2:p.Glu119Asp
ENST00000399397.5:c.321G>T	ENSP00000382329.2:p.Glu107Asp
ENST00000428619.1:c.138G>T	ENSP00000399057.2:p.Glu46Asp
ENST00000498332.5:n.227G>T
NM_001277269.1:c.357G>T	NP_001264198.1:p.Glu119Asp
NM_001292063.1:c.321G>T	NP_001278992.1:p.Glu107Asp
NM_001277269.2:c.357G>T	NP_001264198.1:p.Glu119Asp
NM_001292063.2:c.321G>T MANE Select	NP_001278992.1:p.Glu107Asp