Canonical Allele Identifier: CA355962147

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001816G>A , CM000666.2:g.1001816G>A	GRCh38
NC_000004.11:g.995604G>A , CM000666.1:g.995604G>A	GRCh37
NC_000004.10:g.985604G>A	NCBI36
NG_008103.1:g.19820G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.727G>A MANE Select	NP_000194.2:p.Asp243Asn
ENST00000514224.2:c.727G>A MANE Select	ENSP00000425081.2:p.Asp243Asn
NM_000203.4:c.727G>A	NP_000194.2:p.Asp243Asn
NM_001363576.1:c.331G>A	NP_001350505.1:p.Asp111Asn
NR_110313.1:n.815G>A
ENST00000247933.8:c.727G>A	ENSP00000247933.4:p.Asp243Asn
ENST00000247933.9:c.727G>A	ENSP00000247933.4:p.Asp243Asn
ENST00000502910.5:c.586G>A	ENSP00000422952.1:p.Asp196Asn
ENST00000509948.5:c.520G>A	ENSP00000424227.1:p.Asp174Asn
ENST00000514192.5:c.544G>A	ENSP00000423685.1:p.Asp182Asn
ENST00000514224.1:c.331G>A	ENSP00000425081.1:p.Asp111Asn
ENST00000514698.5:n.627G>A
ENST00000652070.1:n.783G>A
XM_006713882.2:c.331G>A	XP_006713945.1:p.Asp111Asn
XM_011513459.1:c.586G>A	XP_011511761.1:p.Asp196Asn
XM_011513460.1:c.586G>A	XP_011511762.1:p.Asp196Asn
XM_011513461.1:c.520G>A	XP_011511763.1:p.Asp174Asn
XM_011513461.2:c.520G>A	XP_011511763.1:p.Asp174Asn
XM_011513462.1:c.439G>A	XP_011511764.1:p.Asp147Asn
XM_011513463.1:c.439G>A	XP_011511765.1:p.Asp147Asn
XM_017008163.1:c.-234G>A	XP_016863652.1:n.-234G>A
XR_924947.1:n.796G>A