Canonical Allele Identifier: CA379810929

Gene: OTOG

Linked Data

• gnomAD v4: 11-17632227-G-A
• COSMIC: COSM6032579
• MyVariant Identifiers: chr11:g.17653774G>A (hg19) ; chr11:g.17632227G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17632227G>A , CM000673.2:g.17632227G>A	GRCh38
NC_000011.9:g.17653774G>A , CM000673.1:g.17653774G>A	GRCh37
NC_000011.8:g.17610350G>A	NCBI36
NG_033191.1:g.89855G>A
NG_033191.2:g.89855G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000399391.7:c.7108+1G>A	ENSP00000382323.2:n.7108+1G>A
ENST00000399397.6:c.7072+1G>A MANE Select	ENSP00000382329.2:n.7072+1G>A
ENST00000342528.2:c.4126+1G>A	ENSP00000341666.2:n.4126+1G>A
ENST00000399391.6:c.7108+1G>A	ENSP00000382323.2:n.7108+1G>A
ENST00000399397.5:c.7072+1G>A	ENSP00000382329.2:n.7072+1G>A
NM_001277269.1:c.7108+1G>A	NP_001264198.1:n.7108+1G>A
NM_001292063.1:c.7072+1G>A	NP_001278992.1:n.7072+1G>A
NM_001277269.2:c.7108+1G>A	NP_001264198.1:n.7108+1G>A
NM_001292063.2:c.7072+1G>A MANE Select	NP_001278992.1:n.7072+1G>A