Canonical Allele Identifier: CA218454572

Gene: OTOG

Linked Data

• dbSNP Id: rs988638407
• gnomAD v2: 11-17660013-G-A
• gnomAD v4: 11-17638466-G-A
• MyVariant Identifiers: chr11:g.17660013G>A (hg19) ; chr11:g.17638466G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17638466G>A , CM000673.2:g.17638466G>A	GRCh38
NC_000011.9:g.17660013G>A , CM000673.1:g.17660013G>A	GRCh37
NC_000011.8:g.17616589G>A	NCBI36
NG_033191.1:g.96094G>A
NG_033191.2:g.96094G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7847G>A	ENSP00000382323.2:p.Arg2616His
ENST00000399397.6:c.7811G>A MANE Select	ENSP00000382329.2:p.Arg2604His
ENST00000342528.2:c.4439G>A	ENSP00000341666.2:p.Arg1480His
ENST00000399391.6:c.7847G>A	ENSP00000382323.2:p.Arg2616His
ENST00000399397.5:c.7811G>A	ENSP00000382329.2:p.Arg2604His
NM_001277269.1:c.7847G>A	NP_001264198.1:p.Arg2616His
NM_001292063.1:c.7811G>A	NP_001278992.1:p.Arg2604His
NM_001277269.2:c.7847G>A	NP_001264198.1:p.Arg2616His
NM_001292063.2:c.7811G>A MANE Select	NP_001278992.1:p.Arg2604His