Canonical Allele Identifier: CA2802113

Gene: IDUA

Linked Data

• dbSNP Id: rs370847691
• ExAC: 4:995848 G / A
• gnomAD v2: 4-995848-G-A
• gnomAD v4: 4-1002060-G-A
• MyVariant Identifiers: chr4:g.995848G>A (hg19) ; chr4:g.1002060G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002060G>A , CM000666.2:g.1002060G>A	GRCh38
NC_000004.11:g.995848G>A , CM000666.1:g.995848G>A	GRCh37
NC_000004.10:g.985848G>A	NCBI36
NG_008103.1:g.20064G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.871G>A	ENSP00000247933.4:p.Ala291Thr
ENST00000514224.2:c.871G>A MANE Select	ENSP00000425081.2:p.Ala291Thr
ENST00000652070.1:n.927G>A
ENST00000247933.8:c.871G>A	ENSP00000247933.4:p.Ala291Thr
ENST00000514192.5:c.688G>A	ENSP00000423685.1:p.Ala230Thr
ENST00000514224.1:c.475G>A	ENSP00000425081.1:p.Ala159Thr
ENST00000514698.5:n.871G>A
NM_000203.4:c.871G>A	NP_000194.2:p.Ala291Thr
NR_110313.1:n.959G>A
XM_006713882.2:c.475G>A	XP_006713945.1:p.Ala159Thr
XM_011513459.1:c.830G>A	XP_011511761.1:p.Arg277His
XM_011513460.1:c.730G>A	XP_011511762.1:p.Ala244Thr
XM_011513461.1:c.664G>A	XP_011511763.1:p.Ala222Thr
XM_011513462.1:c.583G>A	XP_011511764.1:p.Ala195Thr
XM_011513463.1:c.583G>A	XP_011511765.1:p.Ala195Thr
XR_924947.1:n.940G>A
NM_000203.5:c.871G>A MANE Select	NP_000194.2:p.Ala291Thr
NM_001363576.1:c.475G>A	NP_001350505.1:p.Ala159Thr
XM_011513461.2:c.664G>A	XP_011511763.1:p.Ala222Thr
XM_017008163.1:c.-90G>A	XP_016863652.1:n.-90G>A