Canonical Allele Identifier: CA218490372

Gene: OTOG

Linked Data

• dbSNP Id: rs746288631
• gnomAD v4: 11-17553642-G-A
• MyVariant Identifiers: chr11:g.17575189G>A (hg19) ; chr11:g.17553642G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553642G>A , CM000673.2:g.17553642G>A	GRCh38
NC_000011.9:g.17575189G>A , CM000673.1:g.17575189G>A	GRCh37
NC_000011.8:g.17531765G>A	NCBI36
NG_033191.1:g.11270G>A
NG_033191.2:g.11270G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.576+123G>A	ENSP00000382323.2:n.576+123G>A
ENST00000399397.6:c.540+123G>A MANE Select	ENSP00000382329.2:n.540+123G>A
ENST00000399391.6:c.576+123G>A	ENSP00000382323.2:n.576+123G>A
ENST00000399397.5:c.540+123G>A	ENSP00000382329.2:n.540+123G>A
ENST00000498332.5:n.446+123G>A
NM_001277269.1:c.576+123G>A	NP_001264198.1:n.576+123G>A
NM_001292063.1:c.540+123G>A	NP_001278992.1:n.540+123G>A
NM_001277269.2:c.576+123G>A	NP_001264198.1:n.576+123G>A
NM_001292063.2:c.540+123G>A MANE Select	NP_001278992.1:n.540+123G>A