Canonical Allele Identifier: CA355962127

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001808A>G , CM000666.2:g.1001808A>G	GRCh38
NC_000004.11:g.995596A>G , CM000666.1:g.995596A>G	GRCh37
NC_000004.10:g.985596A>G	NCBI36
NG_008103.1:g.19812A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.719A>G MANE Select	NP_000194.2:p.His240Arg
ENST00000514224.2:c.719A>G MANE Select	ENSP00000425081.2:p.His240Arg
NM_000203.4:c.719A>G	NP_000194.2:p.His240Arg
NM_001363576.1:c.323A>G	NP_001350505.1:p.His108Arg
NR_110313.1:n.807A>G
ENST00000247933.8:c.719A>G	ENSP00000247933.4:p.His240Arg
ENST00000247933.9:c.719A>G	ENSP00000247933.4:p.His240Arg
ENST00000502910.5:c.578A>G	ENSP00000422952.1:p.His193Arg
ENST00000509948.5:c.512A>G	ENSP00000424227.1:p.His171Arg
ENST00000514192.5:c.536A>G	ENSP00000423685.1:p.His179Arg
ENST00000514224.1:c.323A>G	ENSP00000425081.1:p.His108Arg
ENST00000514698.5:n.619A>G
ENST00000652070.1:n.775A>G
XM_006713882.2:c.323A>G	XP_006713945.1:p.His108Arg
XM_011513459.1:c.578A>G	XP_011511761.1:p.His193Arg
XM_011513460.1:c.578A>G	XP_011511762.1:p.His193Arg
XM_011513461.1:c.512A>G	XP_011511763.1:p.His171Arg
XM_011513461.2:c.512A>G	XP_011511763.1:p.His171Arg
XM_011513462.1:c.431A>G	XP_011511764.1:p.His144Arg
XM_011513463.1:c.431A>G	XP_011511765.1:p.His144Arg
XM_017008163.1:c.-242A>G	XP_016863652.1:n.-242A>G
XR_924947.1:n.788A>G