Canonical Allele Identifier: CA218478911

Gene: OTOG

Linked Data

• dbSNP Id: rs555048192
• gnomAD v2: 11-17634268-G-A
• gnomAD v3: 11-17612721-G-A
• gnomAD v4: 11-17612721-G-A
• MyVariant Identifiers: chr11:g.17634268G>A (hg19) ; chr11:g.17612721G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612721G>A , CM000673.2:g.17612721G>A	GRCh38
NC_000011.9:g.17634268G>A , CM000673.1:g.17634268G>A	GRCh37
NC_000011.8:g.17590844G>A	NCBI36
NG_033191.1:g.70349G>A
NG_033191.2:g.70349G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6430G>A	ENSP00000382323.2:p.Glu2144Lys
ENST00000399397.6:c.6394G>A MANE Select	ENSP00000382329.2:p.Glu2132Lys
ENST00000342528.2:c.3448G>A	ENSP00000341666.2:p.Glu1150Lys
ENST00000399391.6:c.6430G>A	ENSP00000382323.2:p.Glu2144Lys
ENST00000399397.5:c.6394G>A	ENSP00000382329.2:p.Glu2132Lys
NM_001277269.1:c.6430G>A	NP_001264198.1:p.Glu2144Lys
NM_001292063.1:c.6394G>A	NP_001278992.1:p.Glu2132Lys
NM_001277269.2:c.6430G>A	NP_001264198.1:p.Glu2144Lys
NM_001292063.2:c.6394G>A MANE Select	NP_001278992.1:p.Glu2132Lys