Canonical Allele Identifier: CA10319002

Gene: MIOX

Linked Data

• dbSNP Id: rs367613925
• ExAC: 22:50928246 G / A
• gnomAD v2: 22-50928246-G-A
• gnomAD v3: 22-50489817-G-A
• gnomAD v4: 22-50489817-G-A
• MyVariant Identifiers: chr22:g.50928246G>A (hg19) ; chr22:g.50489817G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50489817G>A , CM000684.2:g.50489817G>A	GRCh38
NC_000022.10:g.50928246G>A , CM000684.1:g.50928246G>A	GRCh37
NC_000022.9:g.49275112G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000216075.11:c.819G>A MANE Select	ENSP00000216075.6:p.Gly273=
ENST00000216075.10:c.819G>A	ENSP00000216075.6:p.Gly273=
ENST00000395732.7:c.805G>A	ENSP00000379081.3:p.Ala269Thr
ENST00000395733.7:c.688G>A	ENSP00000379082.3:p.Ala230Thr
ENST00000451761.1:c.759G>A	ENSP00000409894.1:p.Gly253=
NM_017584.5:c.819G>A	NP_060054.4:p.Gly273=
XM_005261925.3:c.681G>A	XP_005261982.1:p.Gly227=
XR_244455.2:n.3315G>A
XM_005261925.4:c.681G>A	XP_005261982.1:p.Gly227=
NM_017584.6:c.819G>A MANE Select	NP_060054.4:p.Gly273=