Canonical Allele Identifier: CA1058438010

Gene: IDUA

Linked Data

• dbSNP Id: rs1715127411
• gnomAD v3: 4-1002166-G-A
• gnomAD v4: 4-1002166-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002166G>A , CM000666.2:g.1002166G>A	GRCh38
NC_000004.11:g.995954G>A , CM000666.1:g.995954G>A	GRCh37
NC_000004.10:g.985954G>A	NCBI36
NG_008103.1:g.20170G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.972+5G>A	ENSP00000247933.4:n.972+5G>A
ENST00000514224.2:c.972+5G>A MANE Select	ENSP00000425081.2:n.972+5G>A
ENST00000652070.1:n.1028+5G>A
ENST00000247933.8:c.972+5G>A	ENSP00000247933.4:n.972+5G>A
ENST00000514224.1:c.576+5G>A	ENSP00000425081.1:n.576+5G>A
ENST00000514698.5:n.977G>A
NM_000203.4:c.972+5G>A	NP_000194.2:n.972+5G>A
NR_110313.1:n.1060+5G>A
XM_006713882.2:c.576+5G>A	XP_006713945.1:n.576+5G>A
XM_011513459.1:c.936G>A	XP_011511761.1:p.Gly312=
XM_011513460.1:c.831+5G>A	XP_011511762.1:n.831+5G>A
XM_011513461.1:c.765+5G>A	XP_011511763.1:n.765+5G>A
XM_011513462.1:c.684+5G>A	XP_011511764.1:n.684+5G>A
XM_011513463.1:c.684+5G>A	XP_011511765.1:n.684+5G>A
XR_924947.1:n.1041+5G>A
NM_000203.5:c.972+5G>A MANE Select	NP_000194.2:n.972+5G>A
NM_001363576.1:c.576+5G>A	NP_001350505.1:n.576+5G>A
XM_011513461.2:c.765+5G>A	XP_011511763.1:n.765+5G>A
XM_017008163.1:c.12+5G>A	XP_016863652.1:n.12+5G>A