Canonical Allele Identifier: CA218490201

Gene: OTOG

Linked Data

• dbSNP Id: rs779427684
• gnomAD v2: 11-17575032-G-T
• gnomAD v4: 11-17553485-G-T
• MyVariant Identifiers: chr11:g.17575032G>T (hg19) ; chr11:g.17553485G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553485G>T , CM000673.2:g.17553485G>T	GRCh38
NC_000011.9:g.17575032G>T , CM000673.1:g.17575032G>T	GRCh37
NC_000011.8:g.17531608G>T	NCBI36
NG_033191.1:g.11113G>T
NG_033191.2:g.11113G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000399391.7:c.542G>T	ENSP00000382323.2:p.Arg181Leu
ENST00000399397.6:c.506G>T MANE Select	ENSP00000382329.2:p.Arg169Leu
ENST00000399391.6:c.542G>T	ENSP00000382323.2:p.Arg181Leu
ENST00000399397.5:c.506G>T	ENSP00000382329.2:p.Arg169Leu
ENST00000498332.5:n.412G>T
NM_001277269.1:c.542G>T	NP_001264198.1:p.Arg181Leu
NM_001292063.1:c.506G>T	NP_001278992.1:p.Arg169Leu
NM_001277269.2:c.542G>T	NP_001264198.1:p.Arg181Leu
NM_001292063.2:c.506G>T MANE Select	NP_001278992.1:p.Arg169Leu