Canonical Allele Identifier: CA412150626

Gene: MIOX

Linked Data

• ClinVar Variation Id: 2255771
• ClinVar RCV Id: RCV004110540
• MyVariant Identifiers: chr22:g.50928260A>G (hg19) ; chr22:g.50489831A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50489831A>G , CM000684.2:g.50489831A>G	GRCh38
NC_000022.10:g.50928260A>G , CM000684.1:g.50928260A>G	GRCh37
NC_000022.9:g.49275126A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216075.11:c.833A>G MANE Select	ENSP00000216075.6:p.Tyr278Cys
ENST00000216075.10:c.833A>G	ENSP00000216075.6:p.Tyr278Cys
ENST00000395732.7:c.*6A>G	ENSP00000379081.3:n.*6A>G
ENST00000395733.7:c.*6A>G	ENSP00000379082.3:n.*6A>G
ENST00000451761.1:c.773A>G	ENSP00000409894.1:p.Tyr258Cys
NM_017584.5:c.833A>G	NP_060054.4:p.Tyr278Cys
XM_005261925.3:c.695A>G	XP_005261982.1:p.Tyr232Cys
XR_244455.2:n.3329A>G
XM_005261925.4:c.695A>G	XP_005261982.1:p.Tyr232Cys
NM_017584.6:c.833A>G MANE Select	NP_060054.4:p.Tyr278Cys