Canonical Allele Identifier: CA355962129

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001809C>A , CM000666.2:g.1001809C>A	GRCh38
NC_000004.11:g.995597C>A , CM000666.1:g.995597C>A	GRCh37
NC_000004.10:g.985597C>A	NCBI36
NG_008103.1:g.19813C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.720C>A MANE Select	NP_000194.2:p.His240Gln
ENST00000514224.2:c.720C>A MANE Select	ENSP00000425081.2:p.His240Gln
NM_000203.4:c.720C>A	NP_000194.2:p.His240Gln
NM_001363576.1:c.324C>A	NP_001350505.1:p.His108Gln
NR_110313.1:n.808C>A
ENST00000247933.8:c.720C>A	ENSP00000247933.4:p.His240Gln
ENST00000247933.9:c.720C>A	ENSP00000247933.4:p.His240Gln
ENST00000502910.5:c.579C>A	ENSP00000422952.1:p.His193Gln
ENST00000509948.5:c.513C>A	ENSP00000424227.1:p.His171Gln
ENST00000514192.5:c.537C>A	ENSP00000423685.1:p.His179Gln
ENST00000514224.1:c.324C>A	ENSP00000425081.1:p.His108Gln
ENST00000514698.5:n.620C>A
ENST00000652070.1:n.776C>A
XM_006713882.2:c.324C>A	XP_006713945.1:p.His108Gln
XM_011513459.1:c.579C>A	XP_011511761.1:p.His193Gln
XM_011513460.1:c.579C>A	XP_011511762.1:p.His193Gln
XM_011513461.1:c.513C>A	XP_011511763.1:p.His171Gln
XM_011513461.2:c.513C>A	XP_011511763.1:p.His171Gln
XM_011513462.1:c.432C>A	XP_011511764.1:p.His144Gln
XM_011513463.1:c.432C>A	XP_011511765.1:p.His144Gln
XM_017008163.1:c.-241C>A	XP_016863652.1:n.-241C>A
XR_924947.1:n.789C>A