Canonical Allele Identifier: CA355962120

Gene: IDUA

Linked Data

• dbSNP Id: rs1375365617
• gnomAD v2: 4-995593-G-A
• gnomAD v4: 4-1001805-G-A
• MyVariant Identifiers: chr4:g.995593G>A (hg19) ; chr4:g.1001805G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001805G>A , CM000666.2:g.1001805G>A	GRCh38
NC_000004.11:g.995593G>A , CM000666.1:g.995593G>A	GRCh37
NC_000004.10:g.985593G>A	NCBI36
NG_008103.1:g.19809G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.716G>A	ENSP00000247933.4:p.Arg239His
ENST00000514224.2:c.716G>A MANE Select	ENSP00000425081.2:p.Arg239His
ENST00000652070.1:n.772G>A
ENST00000247933.8:c.716G>A	ENSP00000247933.4:p.Arg239His
ENST00000502910.5:c.575G>A	ENSP00000422952.1:p.Arg192His
ENST00000509948.5:c.509G>A	ENSP00000424227.1:p.Arg170His
ENST00000514192.5:c.533G>A	ENSP00000423685.1:p.Arg178His
ENST00000514224.1:c.320G>A	ENSP00000425081.1:p.Arg107His
ENST00000514698.5:n.616G>A
NM_000203.4:c.716G>A	NP_000194.2:p.Arg239His
NR_110313.1:n.804G>A
XM_006713882.2:c.320G>A	XP_006713945.1:p.Arg107His
XM_011513459.1:c.575G>A	XP_011511761.1:p.Arg192His
XM_011513460.1:c.575G>A	XP_011511762.1:p.Arg192His
XM_011513461.1:c.509G>A	XP_011511763.1:p.Arg170His
XM_011513462.1:c.428G>A	XP_011511764.1:p.Arg143His
XM_011513463.1:c.428G>A	XP_011511765.1:p.Arg143His
XR_924947.1:n.785G>A
NM_000203.5:c.716G>A MANE Select	NP_000194.2:p.Arg239His
NM_001363576.1:c.320G>A	NP_001350505.1:p.Arg107His
XM_011513461.2:c.509G>A	XP_011511763.1:p.Arg170His
XM_017008163.1:c.-245G>A	XP_016863652.1:n.-245G>A