Canonical Allele Identifier: CA91170772

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2152419
• ClinVar RCV Id: RCV003061664
• dbSNP Id: rs920228043
• gnomAD v3: 4-1003412-G-A
• gnomAD v4: 4-1003412-G-A
• COSMIC: COSM6362291 ; COSM6362292
• MyVariant Identifiers: chr4:g.997200G>A (hg19) ; chr4:g.1003412G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003412G>A , CM000666.2:g.1003412G>A	GRCh38
NC_000004.11:g.997200G>A , CM000666.1:g.997200G>A	GRCh37
NC_000004.10:g.987200G>A	NCBI36
NG_008103.1:g.21416G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1592G>A	ENSP00000247933.4:p.Arg531Gln
ENST00000514224.2:c.1592G>A MANE Select	ENSP00000425081.2:p.Arg531Gln
ENST00000652070.1:n.1648G>A
ENST00000247933.8:c.1592G>A	ENSP00000247933.4:p.Arg531Gln
ENST00000514224.1:c.1196G>A	ENSP00000425081.1:p.Arg399Gln
ENST00000514698.5:n.1699G>A
NM_000203.4:c.1592G>A	NP_000194.2:p.Arg531Gln
NR_110313.1:n.1680G>A
XM_006713882.2:c.1196G>A	XP_006713945.1:p.Arg399Gln
XM_011513459.1:c.1658G>A	XP_011511761.1:p.Arg553Gln
XM_011513460.1:c.1451G>A	XP_011511762.1:p.Arg484Gln
XM_011513461.1:c.1385G>A	XP_011511763.1:p.Arg462Gln
XM_011513462.1:c.1304G>A	XP_011511764.1:p.Arg435Gln
XM_011513463.1:c.1304G>A	XP_011511765.1:p.Arg435Gln
XR_924947.1:n.1848G>A
NM_000203.5:c.1592G>A MANE Select	NP_000194.2:p.Arg531Gln
NM_001363576.1:c.1196G>A	NP_001350505.1:p.Arg399Gln
XM_011513461.2:c.1385G>A	XP_011511763.1:p.Arg462Gln
XM_017008163.1:c.632G>A	XP_016863652.1:p.Arg211Gln