Canonical Allele Identifier: CA355961961

Gene: IDUA

Linked Data

• dbSNP Id: rs1560546903
• gnomAD v4: 4-1001720-G-A
• MyVariant Identifiers: chr4:g.995508G>A (hg19) ; chr4:g.1001720G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001720G>A , CM000666.2:g.1001720G>A	GRCh38
NC_000004.11:g.995508G>A , CM000666.1:g.995508G>A	GRCh37
NC_000004.10:g.985508G>A	NCBI36
NG_008103.1:g.19724G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.631G>A	ENSP00000247933.4:p.Ala211Thr
ENST00000514224.2:c.631G>A MANE Select	ENSP00000425081.2:p.Ala211Thr
ENST00000652070.1:n.687G>A
ENST00000247933.8:c.631G>A	ENSP00000247933.4:p.Ala211Thr
ENST00000502910.5:c.490G>A	ENSP00000422952.1:p.Ala164Thr
ENST00000509948.5:c.424G>A	ENSP00000424227.1:p.Ala142Thr
ENST00000514192.5:c.448G>A	ENSP00000423685.1:p.Ala150Thr
ENST00000514224.1:c.235G>A	ENSP00000425081.1:p.Ala79Thr
ENST00000514698.5:n.531G>A
NM_000203.4:c.631G>A	NP_000194.2:p.Ala211Thr
NR_110313.1:n.719G>A
XM_006713882.2:c.235G>A	XP_006713945.1:p.Ala79Thr
XM_011513459.1:c.490G>A	XP_011511761.1:p.Ala164Thr
XM_011513460.1:c.490G>A	XP_011511762.1:p.Ala164Thr
XM_011513461.1:c.424G>A	XP_011511763.1:p.Ala142Thr
XM_011513462.1:c.343G>A	XP_011511764.1:p.Ala115Thr
XM_011513463.1:c.343G>A	XP_011511765.1:p.Ala115Thr
XR_924947.1:n.700G>A
NM_000203.5:c.631G>A MANE Select	NP_000194.2:p.Ala211Thr
NM_001363576.1:c.235G>A	NP_001350505.1:p.Ala79Thr
XM_011513461.2:c.424G>A	XP_011511763.1:p.Ala142Thr
XM_017008163.1:c.-330G>A	XP_016863652.1:n.-330G>A