Canonical Allele Identifier: CA412150487

Gene: MIOX

Linked Data

• gnomAD v4: 22-50489815-G-T
• MyVariant Identifiers: chr22:g.50928244G>T (hg19) ; chr22:g.50489815G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50489815G>T , CM000684.2:g.50489815G>T	GRCh38
NC_000022.10:g.50928244G>T , CM000684.1:g.50928244G>T	GRCh37
NC_000022.9:g.49275110G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000216075.11:c.817G>T MANE Select	ENSP00000216075.6:p.Gly273Trp
ENST00000216075.10:c.817G>T	ENSP00000216075.6:p.Gly273Trp
ENST00000395732.7:c.803G>T	ENSP00000379081.3:p.Gly268Val
ENST00000395733.7:c.686G>T	ENSP00000379082.3:p.Gly229Val
ENST00000451761.1:c.757G>T	ENSP00000409894.1:p.Gly253Trp
NM_017584.5:c.817G>T	NP_060054.4:p.Gly273Trp
XM_005261925.3:c.679G>T	XP_005261982.1:p.Gly227Trp
XR_244455.2:n.3313G>T
XM_005261925.4:c.679G>T	XP_005261982.1:p.Gly227Trp
NM_017584.6:c.817G>T MANE Select	NP_060054.4:p.Gly273Trp