Canonical Allele Identifier: CA379812667

Gene: OTOG

Linked Data

• dbSNP Id: rs114242958
• gnomAD v3: 11-17634898-G-C
• gnomAD v4: 11-17634898-G-C
• MyVariant Identifiers: chr11:g.17656445G>C (hg19) ; chr11:g.17634898G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17634898G>C , CM000673.2:g.17634898G>C	GRCh38
NC_000011.9:g.17656445G>C , CM000673.1:g.17656445G>C	GRCh37
NC_000011.8:g.17613021G>C	NCBI36
NG_033191.1:g.92526G>C
NG_033191.2:g.92526G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7571G>C	ENSP00000382323.2:p.Arg2524Pro
ENST00000399397.6:c.7535G>C MANE Select	ENSP00000382329.2:p.Arg2512Pro
ENST00000342528.2:c.4322-712G>C	ENSP00000341666.2:n.4322-712G>C
ENST00000399391.6:c.7571G>C	ENSP00000382323.2:p.Arg2524Pro
ENST00000399397.5:c.7535G>C	ENSP00000382329.2:p.Arg2512Pro
NM_001277269.1:c.7571G>C	NP_001264198.1:p.Arg2524Pro
NM_001292063.1:c.7535G>C	NP_001278992.1:p.Arg2512Pro
NM_001277269.2:c.7571G>C	NP_001264198.1:p.Arg2524Pro
NM_001292063.2:c.7535G>C MANE Select	NP_001278992.1:p.Arg2512Pro