Canonical Allele Identifier: CA640356868

Gene: MIOX

Linked Data

• dbSNP Id: rs1569516738
• gnomAD v2: 22-50928239-A-AC
• gnomAD v4: 22-50489810-A-AC
• MyVariant Identifiers: chr22:g.50928239_50928240insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50489812dup , CM000684.2:g.50489812dup	GRCh38
NC_000022.10:g.50928241dup , CM000684.1:g.50928241dup	GRCh37
NC_000022.9:g.49275107dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000216075.11:c.814dup MANE Select	ENSP00000216075.6:p.Gln272ProfsTer5
ENST00000216075.10:c.814dup	ENSP00000216075.6:p.Gln272ProfsTer5
ENST00000395732.7:c.800dup	ENSP00000379081.3:p.Gly268ArgfsTer12
ENST00000395733.7:c.683dup	ENSP00000379082.3:p.Gly229ArgfsTer12
ENST00000451761.1:c.754dup	ENSP00000409894.1:p.Gln252ProfsTer5
NM_017584.5:c.814dup	NP_060054.4:p.Gln272ProfsTer5
XM_005261925.3:c.676dup	XP_005261982.1:p.Gln226ProfsTer5
XR_244455.2:n.3310dup
XM_005261925.4:c.676dup	XP_005261982.1:p.Gln226ProfsTer5
NM_017584.6:c.814dup MANE Select	NP_060054.4:p.Gln272ProfsTer5