Canonical Allele Identifier: CA355960965

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1000611G>A , CM000666.2:g.1000611G>A	GRCh38
NC_000004.11:g.994399G>A , CM000666.1:g.994399G>A	GRCh37
NC_000004.10:g.984399G>A	NCBI36
NG_008103.1:g.18615G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.300-1G>A MANE Select	NP_000194.2:n.300-1G>A
ENST00000514224.2:c.300-1G>A MANE Select	ENSP00000425081.2:n.300-1G>A
NM_000203.4:c.300-1G>A	NP_000194.2:n.300-1G>A
NM_001363576.1:c.-97-1G>A	NP_001350505.1:n.-97-1G>A
NR_110313.1:n.388-1G>A
ENST00000247933.8:c.300-1G>A	ENSP00000247933.4:n.300-1G>A
ENST00000247933.9:c.300-1G>A	ENSP00000247933.4:n.300-1G>A
ENST00000502910.5:c.159-1G>A	ENSP00000422952.1:n.159-1G>A
ENST00000504568.5:c.260-1G>A
ENST00000506561.5:n.309-1G>A
ENST00000508168.5:n.178-1G>A
ENST00000509948.5:c.93-1G>A	ENSP00000424227.1:n.93-1G>A
ENST00000514192.5:c.117-1G>A	ENSP00000423685.1:n.117-1G>A
ENST00000514224.1:c.-97-1G>A	ENSP00000425081.1:n.-97-1G>A
ENST00000514698.5:n.200-1G>A
ENST00000652070.1:n.356-1G>A
XM_006713882.2:c.-97-1G>A	XP_006713945.1:n.-97-1G>A
XM_011513459.1:c.159-1G>A	XP_011511761.1:n.159-1G>A
XM_011513460.1:c.159-1G>A	XP_011511762.1:n.159-1G>A
XM_011513461.1:c.93-1G>A	XP_011511763.1:n.93-1G>A
XM_011513461.2:c.93-1G>A	XP_011511763.1:n.93-1G>A
XM_011513462.1:c.-173-1G>A	XP_011511764.1:n.-173-1G>A
XM_011513463.1:c.-173-1G>A	XP_011511765.1:n.-173-1G>A
XM_017008163.1:c.-1167-1G>A	XP_016863652.1:n.-1167-1G>A
XR_924947.1:n.369-1G>A