Canonical Allele Identifier: CA220504

Gene: IDUA

Linked Data

• ClinVar Variation Id: 92634
• ClinVar RCV Id: RCV001387944 ; RCV000790663 ; RCV000173987
• dbSNP Id: rs398123256
• gnomAD v4: 4-1003475-G-A
• MyVariant Identifiers: chr4:g.997263G>A (hg19) ; chr4:g.1003475G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003475G>A , CM000666.2:g.1003475G>A	GRCh38
NC_000004.11:g.997263G>A , CM000666.1:g.997263G>A	GRCh37
NC_000004.10:g.987263G>A	NCBI36
NG_008103.1:g.21479G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1650+5G>A	ENSP00000247933.4:n.1650+5G>A
ENST00000514224.2:c.1650+5G>A MANE Select	ENSP00000425081.2:n.1650+5G>A
ENST00000652070.1:n.1706+5G>A
ENST00000247933.8:c.1650+5G>A	ENSP00000247933.4:n.1650+5G>A
ENST00000514224.1:c.1254+5G>A	ENSP00000425081.1:n.1254+5G>A
ENST00000514417.1:n.42+5G>A
ENST00000514698.5:n.1757+5G>A
NM_000203.4:c.1650+5G>A	NP_000194.2:n.1650+5G>A
NR_110313.1:n.1738+5G>A
XM_006713882.2:c.1254+5G>A	XP_006713945.1:n.1254+5G>A
XM_011513459.1:c.1716+5G>A	XP_011511761.1:n.1716+5G>A
XM_011513460.1:c.1509+5G>A	XP_011511762.1:n.1509+5G>A
XM_011513461.1:c.1443+5G>A	XP_011511763.1:n.1443+5G>A
XM_011513462.1:c.1362+5G>A	XP_011511764.1:n.1362+5G>A
XM_011513463.1:c.1362+5G>A	XP_011511765.1:n.1362+5G>A
XR_924947.1:n.1906+5G>A
NM_000203.5:c.1650+5G>A MANE Select	NP_000194.2:n.1650+5G>A
NM_001363576.1:c.1254+5G>A	NP_001350505.1:n.1254+5G>A
XM_011513461.2:c.1443+5G>A	XP_011511763.1:n.1443+5G>A
XM_017008163.1:c.690+5G>A	XP_016863652.1:n.690+5G>A