Canonical Allele Identifier: CA355965146

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1066684
• ClinVar RCV Id: RCV001377750
• dbSNP Id: rs2153022990
• MyVariant Identifiers: chr4:g.997335A>G (hg19) ; chr4:g.1003547A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003547A>G , CM000666.2:g.1003547A>G	GRCh38
NC_000004.11:g.997335A>G , CM000666.1:g.997335A>G	GRCh37
NC_000004.10:g.987335A>G	NCBI36
NG_008103.1:g.21551A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1651-2A>G	ENSP00000247933.4:n.1651-2A>G
ENST00000514224.2:c.1651-2A>G MANE Select	ENSP00000425081.2:n.1651-2A>G
ENST00000652070.1:n.1707-2A>G
ENST00000247933.8:c.1651-2A>G	ENSP00000247933.4:n.1651-2A>G
ENST00000514224.1:c.1255-2A>G	ENSP00000425081.1:n.1255-2A>G
ENST00000514417.1:n.43-2A>G
ENST00000514698.5:n.1758-2A>G
NM_000203.4:c.1651-2A>G	NP_000194.2:n.1651-2A>G
NR_110313.1:n.1739-2A>G
XM_006713882.2:c.1255-2A>G	XP_006713945.1:n.1255-2A>G
XM_011513459.1:c.1717-2A>G	XP_011511761.1:n.1717-2A>G
XM_011513460.1:c.1510-2A>G	XP_011511762.1:n.1510-2A>G
XM_011513461.1:c.1444-2A>G	XP_011511763.1:n.1444-2A>G
XM_011513462.1:c.1363-2A>G	XP_011511764.1:n.1363-2A>G
XM_011513463.1:c.1363-2A>G	XP_011511765.1:n.1363-2A>G
XR_924947.1:n.1907-2A>G
NM_000203.5:c.1651-2A>G MANE Select	NP_000194.2:n.1651-2A>G
NM_001363576.1:c.1255-2A>G	NP_001350505.1:n.1255-2A>G
XM_011513461.2:c.1444-2A>G	XP_011511763.1:n.1444-2A>G
XM_017008163.1:c.691-2A>G	XP_016863652.1:n.691-2A>G