Canonical Allele Identifier: CA5906127

Gene: OTOG

Linked Data

• ClinVar Variation Id: 226908
• ClinVar RCV Id: RCV000215324 ; RCV000712488
• dbSNP Id: rs61743165
• ExAC: 11:17655748 G / A
• gnomAD v2: 11-17655748-G-A
• gnomAD v3: 11-17634201-G-A
• gnomAD v4: 11-17634201-G-A
• MyVariant Identifiers: chr11:g.17655748G>A (hg19) ; chr11:g.17634201G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17634201G>A , CM000673.2:g.17634201G>A	GRCh38
NC_000011.9:g.17655748G>A , CM000673.1:g.17655748G>A	GRCh37
NC_000011.8:g.17612324G>A	NCBI36
NG_033191.1:g.91829G>A
NG_033191.2:g.91829G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000399391.7:c.7436G>A	ENSP00000382323.2:p.Arg2479His
ENST00000399397.6:c.7400G>A MANE Select	ENSP00000382329.2:p.Arg2467His
ENST00000342528.2:c.4321+327G>A	ENSP00000341666.2:n.4321+327G>A
ENST00000399391.6:c.7436G>A	ENSP00000382323.2:p.Arg2479His
ENST00000399397.5:c.7400G>A	ENSP00000382329.2:p.Arg2467His
NM_001277269.1:c.7436G>A	NP_001264198.1:p.Arg2479His
NM_001292063.1:c.7400G>A	NP_001278992.1:p.Arg2467His
NM_001277269.2:c.7436G>A	NP_001264198.1:p.Arg2479His
NM_001292063.2:c.7400G>A MANE Select	NP_001278992.1:p.Arg2467His