Canonical Allele Identifier: CA5905310

Gene: OTOG

Linked Data

• ClinVar Variation Id: 226863
• ClinVar RCV Id: RCV000219313 ; RCV000842053
• dbSNP Id: rs111425080
• ExAC: 11:17569050 G / A
• gnomAD v2: 11-17569050-G-A
• gnomAD v3: 11-17547503-G-A
• gnomAD v4: 11-17547503-G-A
• MyVariant Identifiers: chr11:g.17569050G>A (hg19) ; chr11:g.17547503G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17547503G>A , CM000673.2:g.17547503G>A	GRCh38
NC_000011.9:g.17569050G>A , CM000673.1:g.17569050G>A	GRCh37
NC_000011.8:g.17525626G>A	NCBI36
NG_011883.1:g.1914C>T
NG_033191.1:g.5131G>A
NG_011883.2:g.1914C>T
NG_033191.2:g.5131G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.131G>A	ENSP00000382323.2:p.Arg44Gln
ENST00000399397.6:c.94+37G>A MANE Select	ENSP00000382329.2:n.94+37G>A
ENST00000399391.6:c.131G>A	ENSP00000382323.2:p.Arg44Gln
ENST00000399397.5:c.94+37G>A	ENSP00000382329.2:n.94+37G>A
NM_001277269.1:c.131G>A	NP_001264198.1:p.Arg44Gln
NM_001292063.1:c.94+37G>A	NP_001278992.1:n.94+37G>A
NM_001277269.2:c.131G>A	NP_001264198.1:p.Arg44Gln
NM_001292063.2:c.94+37G>A MANE Select	NP_001278992.1:n.94+37G>A