Canonical Allele Identifier: CA784340661

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1629516
• ClinVar RCV Id: RCV002118363
• dbSNP Id: rs941426443
• gnomAD v3: 4-1003329-C-G
• gnomAD v4: 4-1003329-C-G
• MyVariant Identifiers: chr4:g.997117C>G (hg19) ; chr4:g.1003329C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003329C>G , CM000666.2:g.1003329C>G	GRCh38
NC_000004.11:g.997117C>G , CM000666.1:g.997117C>G	GRCh37
NC_000004.10:g.987117C>G	NCBI36
NG_008103.1:g.21333C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1525-16C>G	ENSP00000247933.4:n.1525-16C>G
ENST00000514224.2:c.1525-16C>G MANE Select	ENSP00000425081.2:n.1525-16C>G
ENST00000652070.1:n.1581-16C>G
ENST00000247933.8:c.1525-16C>G	ENSP00000247933.4:n.1525-16C>G
ENST00000502829.1:n.498C>G
ENST00000514224.1:c.1129-16C>G	ENSP00000425081.1:n.1129-16C>G
ENST00000514698.5:n.1632-16C>G
NM_000203.4:c.1525-16C>G	NP_000194.2:n.1525-16C>G
NR_110313.1:n.1613-16C>G
XM_006713882.2:c.1129-16C>G	XP_006713945.1:n.1129-16C>G
XM_011513459.1:c.1591-16C>G	XP_011511761.1:n.1591-16C>G
XM_011513460.1:c.1384-16C>G	XP_011511762.1:n.1384-16C>G
XM_011513461.1:c.1318-16C>G	XP_011511763.1:n.1318-16C>G
XM_011513462.1:c.1237-16C>G	XP_011511764.1:n.1237-16C>G
XM_011513463.1:c.1237-16C>G	XP_011511765.1:n.1237-16C>G
XR_924947.1:n.1765C>G
NM_000203.5:c.1525-16C>G MANE Select	NP_000194.2:n.1525-16C>G
NM_001363576.1:c.1129-16C>G	NP_001350505.1:n.1129-16C>G
XM_011513461.2:c.1318-16C>G	XP_011511763.1:n.1318-16C>G
XM_017008163.1:c.565-16C>G	XP_016863652.1:n.565-16C>G