Canonical Allele Identifier: CA355961839

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001563G>A , CM000666.2:g.1001563G>A	GRCh38
NC_000004.11:g.995351G>A , CM000666.1:g.995351G>A	GRCh37
NC_000004.10:g.985351G>A	NCBI36
NG_008103.1:g.19567G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.589G>A MANE Select	NP_000194.2:p.Gly197Ser
ENST00000514224.2:c.589G>A MANE Select	ENSP00000425081.2:p.Gly197Ser
NM_000203.4:c.589G>A	NP_000194.2:p.Gly197Ser
NM_001363576.1:c.193G>A	NP_001350505.1:p.Gly65Ser
NR_110313.1:n.677G>A
ENST00000247933.8:c.589G>A	ENSP00000247933.4:p.Gly197Ser
ENST00000247933.9:c.589G>A	ENSP00000247933.4:p.Gly197Ser
ENST00000502910.5:c.448G>A	ENSP00000422952.1:p.Gly150Ser
ENST00000504568.5:c.549G>A
ENST00000509948.5:c.382G>A	ENSP00000424227.1:p.Gly128Ser
ENST00000514192.5:c.406G>A	ENSP00000423685.1:p.Gly136Ser
ENST00000514224.1:c.193G>A	ENSP00000425081.1:p.Gly65Ser
ENST00000514698.5:n.489G>A
ENST00000652070.1:n.645G>A
XM_006713882.2:c.193G>A	XP_006713945.1:p.Gly65Ser
XM_011513459.1:c.448G>A	XP_011511761.1:p.Gly150Ser
XM_011513460.1:c.448G>A	XP_011511762.1:p.Gly150Ser
XM_011513461.1:c.382G>A	XP_011511763.1:p.Gly128Ser
XM_011513461.2:c.382G>A	XP_011511763.1:p.Gly128Ser
XM_011513462.1:c.301G>A	XP_011511764.1:p.Gly101Ser
XM_011513463.1:c.301G>A	XP_011511765.1:p.Gly101Ser
XM_017008163.1:c.-400G>A	XP_016863652.1:n.-400G>A
XR_924947.1:n.658G>A