Canonical Allele Identifier: CA2801884

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1000677G>A , CM000666.2:g.1000677G>A	GRCh38
NC_000004.11:g.994465G>A , CM000666.1:g.994465G>A	GRCh37
NC_000004.10:g.984465G>A	NCBI36
NG_008103.1:g.18681G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.365G>A	ENSP00000247933.4:p.Arg122Lys
ENST00000514224.2:c.365G>A MANE Select	ENSP00000425081.2:p.Arg122Lys
ENST00000652070.1:n.421G>A
ENST00000247933.8:c.365G>A	ENSP00000247933.4:p.Arg122Lys
ENST00000502910.5:c.224G>A	ENSP00000422952.1:p.Arg75Lys
ENST00000504568.5:c.325G>A
ENST00000506561.5:n.374G>A
ENST00000508168.5:n.243G>A
ENST00000509948.5:c.158G>A	ENSP00000424227.1:p.Arg53Lys
ENST00000514192.5:c.182G>A	ENSP00000423685.1:p.Arg61Lys
ENST00000514224.1:c.-32G>A	ENSP00000425081.1:n.-32G>A
ENST00000514698.5:n.265G>A
NM_000203.4:c.365G>A	NP_000194.2:p.Arg122Lys
NR_110313.1:n.453G>A
XM_006713882.2:c.-32G>A	XP_006713945.1:n.-32G>A
XM_011513459.1:c.224G>A	XP_011511761.1:p.Arg75Lys
XM_011513460.1:c.224G>A	XP_011511762.1:p.Arg75Lys
XM_011513461.1:c.158G>A	XP_011511763.1:p.Arg53Lys
XM_011513462.1:c.-108G>A	XP_011511764.1:n.-108G>A
XM_011513463.1:c.-108G>A	XP_011511765.1:n.-108G>A
XR_924947.1:n.434G>A
NM_000203.5:c.365G>A MANE Select	NP_000194.2:p.Arg122Lys
NM_001363576.1:c.-32G>A	NP_001350505.1:n.-32G>A
XM_011513461.2:c.158G>A	XP_011511763.1:p.Arg53Lys
XM_017008163.1:c.-1102G>A	XP_016863652.1:n.-1102G>A