Canonical Allele Identifier: CA355961915

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001697A>G , CM000666.2:g.1001697A>G	GRCh38
NC_000004.11:g.995485A>G , CM000666.1:g.995485A>G	GRCh37
NC_000004.10:g.985485A>G	NCBI36
NG_008103.1:g.19701A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.608A>G MANE Select	NP_000194.2:p.Asp203Gly
ENST00000514224.2:c.608A>G MANE Select	ENSP00000425081.2:p.Asp203Gly
NM_000203.4:c.608A>G	NP_000194.2:p.Asp203Gly
NM_001363576.1:c.212A>G	NP_001350505.1:p.Asp71Gly
NR_110313.1:n.696A>G
ENST00000247933.8:c.608A>G	ENSP00000247933.4:p.Asp203Gly
ENST00000247933.9:c.608A>G	ENSP00000247933.4:p.Asp203Gly
ENST00000502910.5:c.467A>G	ENSP00000422952.1:p.Asp156Gly
ENST00000504568.5:c.568A>G
ENST00000509948.5:c.401A>G	ENSP00000424227.1:p.Asp134Gly
ENST00000514192.5:c.425A>G	ENSP00000423685.1:p.Asp142Gly
ENST00000514224.1:c.212A>G	ENSP00000425081.1:p.Asp71Gly
ENST00000514698.5:n.508A>G
ENST00000652070.1:n.664A>G
XM_006713882.2:c.212A>G	XP_006713945.1:p.Asp71Gly
XM_011513459.1:c.467A>G	XP_011511761.1:p.Asp156Gly
XM_011513460.1:c.467A>G	XP_011511762.1:p.Asp156Gly
XM_011513461.1:c.401A>G	XP_011511763.1:p.Asp134Gly
XM_011513461.2:c.401A>G	XP_011511763.1:p.Asp134Gly
XM_011513462.1:c.320A>G	XP_011511764.1:p.Asp107Gly
XM_011513463.1:c.320A>G	XP_011511765.1:p.Asp107Gly
XM_017008163.1:c.-353A>G	XP_016863652.1:n.-353A>G
XR_924947.1:n.677A>G