Canonical Allele Identifier: CA355962214

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2432732
• ClinVar RCV Id: RCV003131221
• dbSNP Id: rs1167839388
• gnomAD v2: 4-995635-G-A
• gnomAD v4: 4-1001847-G-A
• MyVariant Identifiers: chr4:g.995635G>A (hg19) ; chr4:g.1001847G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001847G>A , CM000666.2:g.1001847G>A	GRCh38
NC_000004.11:g.995635G>A , CM000666.1:g.995635G>A	GRCh37
NC_000004.10:g.985635G>A	NCBI36
NG_008103.1:g.19851G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.758G>A	ENSP00000247933.4:p.Gly253Asp
ENST00000514224.2:c.758G>A MANE Select	ENSP00000425081.2:p.Gly253Asp
ENST00000652070.1:n.814G>A
ENST00000247933.8:c.758G>A	ENSP00000247933.4:p.Gly253Asp
ENST00000502910.5:c.617G>A	ENSP00000422952.1:p.Gly206Asp
ENST00000514192.5:c.575G>A	ENSP00000423685.1:p.Gly192Asp
ENST00000514224.1:c.362G>A	ENSP00000425081.1:p.Gly121Asp
ENST00000514698.5:n.658G>A
NM_000203.4:c.758G>A	NP_000194.2:p.Gly253Asp
NR_110313.1:n.846G>A
XM_006713882.2:c.362G>A	XP_006713945.1:p.Gly121Asp
XM_011513459.1:c.617G>A	XP_011511761.1:p.Gly206Asp
XM_011513460.1:c.617G>A	XP_011511762.1:p.Gly206Asp
XM_011513461.1:c.551G>A	XP_011511763.1:p.Gly184Asp
XM_011513462.1:c.470G>A	XP_011511764.1:p.Gly157Asp
XM_011513463.1:c.470G>A	XP_011511765.1:p.Gly157Asp
XR_924947.1:n.827G>A
NM_000203.5:c.758G>A MANE Select	NP_000194.2:p.Gly253Asp
NM_001363576.1:c.362G>A	NP_001350505.1:p.Gly121Asp
XM_011513461.2:c.551G>A	XP_011511763.1:p.Gly184Asp
XM_017008163.1:c.-203G>A	XP_016863652.1:n.-203G>A