Canonical Allele Identifier: CA355965296

Gene: IDUA

Linked Data

• ClinVar Variation Id: 638077
• ClinVar RCV Id: RCV000790543
• dbSNP Id: rs1577544451
• gnomAD v4: 4-1003626-G-A
• MyVariant Identifiers: chr4:g.997414G>A (hg19) ; chr4:g.1003626G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003626G>A , CM000666.2:g.1003626G>A	GRCh38
NC_000004.11:g.997414G>A , CM000666.1:g.997414G>A	GRCh37
NC_000004.10:g.987414G>A	NCBI36
NG_008103.1:g.21630G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1727+1G>A	ENSP00000247933.4:n.1727+1G>A
ENST00000514224.2:c.1727+1G>A MANE Select	ENSP00000425081.2:n.1727+1G>A
ENST00000652070.1:n.1783+1G>A
ENST00000247933.8:c.1727+1G>A	ENSP00000247933.4:n.1727+1G>A
ENST00000514224.1:c.1331+1G>A	ENSP00000425081.1:n.1331+1G>A
ENST00000514417.1:n.120G>A
ENST00000514698.5:n.1835G>A
NM_000203.4:c.1727+1G>A	NP_000194.2:n.1727+1G>A
NR_110313.1:n.1816G>A
XM_006713882.2:c.1331+1G>A	XP_006713945.1:n.1331+1G>A
XM_011513459.1:c.1793+1G>A	XP_011511761.1:n.1793+1G>A
XM_011513460.1:c.1586+1G>A	XP_011511762.1:n.1586+1G>A
XM_011513461.1:c.1520+1G>A	XP_011511763.1:n.1520+1G>A
XM_011513462.1:c.1439+1G>A	XP_011511764.1:n.1439+1G>A
XM_011513463.1:c.1439+1G>A	XP_011511765.1:n.1439+1G>A
XR_924947.1:n.1984G>A
NM_000203.5:c.1727+1G>A MANE Select	NP_000194.2:n.1727+1G>A
NM_001363576.1:c.1331+1G>A	NP_001350505.1:n.1331+1G>A
XM_011513461.2:c.1520+1G>A	XP_011511763.1:n.1520+1G>A
XM_017008163.1:c.767+1G>A	XP_016863652.1:n.767+1G>A