Canonical Allele Identifier: CA218478351

Gene: OTOG

Linked Data

• ClinVar Variation Id: 1595548
• ClinVar RCV Id: RCV002109715
• dbSNP Id: rs964199610
• gnomAD v2: 11-17633864-C-G
• gnomAD v3: 11-17612317-C-G
• gnomAD v4: 11-17612317-C-G
• MyVariant Identifiers: chr11:g.17633864C>G (hg19) ; chr11:g.17612317C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612317C>G , CM000673.2:g.17612317C>G	GRCh38
NC_000011.9:g.17633864C>G , CM000673.1:g.17633864C>G	GRCh37
NC_000011.8:g.17590440C>G	NCBI36
NG_033191.1:g.69945C>G
NG_033191.2:g.69945C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6315C>G	ENSP00000382323.2:p.Leu2105=
ENST00000399397.6:c.6279C>G MANE Select	ENSP00000382329.2:p.Leu2093=
ENST00000342528.2:c.3333C>G	ENSP00000341666.2:p.Leu1111=
ENST00000399391.6:c.6315C>G	ENSP00000382323.2:p.Leu2105=
ENST00000399397.5:c.6279C>G	ENSP00000382329.2:p.Leu2093=
NM_001277269.1:c.6315C>G	NP_001264198.1:p.Leu2105=
NM_001292063.1:c.6279C>G	NP_001278992.1:p.Leu2093=
NM_001277269.2:c.6315C>G	NP_001264198.1:p.Leu2105=
NM_001292063.2:c.6279C>G MANE Select	NP_001278992.1:p.Leu2093=