Canonical Allele Identifier: CA379804583

Gene: OTOG

Linked Data

• ClinVar Variation Id: 2075767
• ClinVar RCV Id: RCV002982584
• MyVariant Identifiers: chr11:g.17634298A>G (hg19) ; chr11:g.17612751A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612751A>G , CM000673.2:g.17612751A>G	GRCh38
NC_000011.9:g.17634298A>G , CM000673.1:g.17634298A>G	GRCh37
NC_000011.8:g.17590874A>G	NCBI36
NG_033191.1:g.70379A>G
NG_033191.2:g.70379A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6460A>G	ENSP00000382323.2:p.Lys2154Glu
ENST00000399397.6:c.6424A>G MANE Select	ENSP00000382329.2:p.Lys2142Glu
ENST00000342528.2:c.3478A>G	ENSP00000341666.2:p.Lys1160Glu
ENST00000399391.6:c.6460A>G	ENSP00000382323.2:p.Lys2154Glu
ENST00000399397.5:c.6424A>G	ENSP00000382329.2:p.Lys2142Glu
NM_001277269.1:c.6460A>G	NP_001264198.1:p.Lys2154Glu
NM_001292063.1:c.6424A>G	NP_001278992.1:p.Lys2142Glu
NM_001277269.2:c.6460A>G	NP_001264198.1:p.Lys2154Glu
NM_001292063.2:c.6424A>G MANE Select	NP_001278992.1:p.Lys2142Glu