Canonical Allele Identifier: CA355961909

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001696G>A , CM000666.2:g.1001696G>A	GRCh38
NC_000004.11:g.995484G>A , CM000666.1:g.995484G>A	GRCh37
NC_000004.10:g.985484G>A	NCBI36
NG_008103.1:g.19700G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.607G>A MANE Select	NP_000194.2:p.Asp203Asn
ENST00000514224.2:c.607G>A MANE Select	ENSP00000425081.2:p.Asp203Asn
NM_000203.4:c.607G>A	NP_000194.2:p.Asp203Asn
NM_001363576.1:c.211G>A	NP_001350505.1:p.Asp71Asn
NR_110313.1:n.695G>A
ENST00000247933.8:c.607G>A	ENSP00000247933.4:p.Asp203Asn
ENST00000247933.9:c.607G>A	ENSP00000247933.4:p.Asp203Asn
ENST00000502910.5:c.466G>A	ENSP00000422952.1:p.Asp156Asn
ENST00000504568.5:c.567G>A
ENST00000509948.5:c.400G>A	ENSP00000424227.1:p.Asp134Asn
ENST00000514192.5:c.424G>A	ENSP00000423685.1:p.Asp142Asn
ENST00000514224.1:c.211G>A	ENSP00000425081.1:p.Asp71Asn
ENST00000514698.5:n.507G>A
ENST00000652070.1:n.663G>A
XM_006713882.2:c.211G>A	XP_006713945.1:p.Asp71Asn
XM_011513459.1:c.466G>A	XP_011511761.1:p.Asp156Asn
XM_011513460.1:c.466G>A	XP_011511762.1:p.Asp156Asn
XM_011513461.1:c.400G>A	XP_011511763.1:p.Asp134Asn
XM_011513461.2:c.400G>A	XP_011511763.1:p.Asp134Asn
XM_011513462.1:c.319G>A	XP_011511764.1:p.Asp107Asn
XM_011513463.1:c.319G>A	XP_011511765.1:p.Asp107Asn
XM_017008163.1:c.-354G>A	XP_016863652.1:n.-354G>A
XR_924947.1:n.676G>A