Canonical Allele Identifier: CA243126

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1000679G>A , CM000666.2:g.1000679G>A	GRCh38
NC_000004.11:g.994467G>A , CM000666.1:g.994467G>A	GRCh37
NC_000004.10:g.984467G>A	NCBI36
NG_008103.1:g.18683G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.367G>A MANE Select	NP_000194.2:p.Glu123Lys
ENST00000514224.2:c.367G>A MANE Select	ENSP00000425081.2:p.Glu123Lys
NM_000203.4:c.367G>A	NP_000194.2:p.Glu123Lys
NM_001363576.1:c.-30G>A	NP_001350505.1:n.-30G>A
NR_110313.1:n.455G>A
ENST00000247933.8:c.367G>A	ENSP00000247933.4:p.Glu123Lys
ENST00000247933.9:c.367G>A	ENSP00000247933.4:p.Glu123Lys
ENST00000502910.5:c.226G>A	ENSP00000422952.1:p.Glu76Lys
ENST00000504568.5:c.327G>A
ENST00000506561.5:n.376G>A
ENST00000508168.5:n.245G>A
ENST00000509948.5:c.160G>A	ENSP00000424227.1:p.Glu54Lys
ENST00000514192.5:c.184G>A	ENSP00000423685.1:p.Glu62Lys
ENST00000514224.1:c.-30G>A	ENSP00000425081.1:n.-30G>A
ENST00000514698.5:n.267G>A
ENST00000652070.1:n.423G>A
XM_006713882.2:c.-30G>A	XP_006713945.1:n.-30G>A
XM_011513459.1:c.226G>A	XP_011511761.1:p.Glu76Lys
XM_011513460.1:c.226G>A	XP_011511762.1:p.Glu76Lys
XM_011513461.1:c.160G>A	XP_011511763.1:p.Glu54Lys
XM_011513461.2:c.160G>A	XP_011511763.1:p.Glu54Lys
XM_011513462.1:c.-106G>A	XP_011511764.1:n.-106G>A
XM_011513463.1:c.-106G>A	XP_011511765.1:n.-106G>A
XM_017008163.1:c.-1100G>A	XP_016863652.1:n.-1100G>A
XR_924947.1:n.436G>A