Canonical Allele Identifier: CA2802064

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001802T>G , CM000666.2:g.1001802T>G	GRCh38
NC_000004.11:g.995590T>G , CM000666.1:g.995590T>G	GRCh37
NC_000004.10:g.985590T>G	NCBI36
NG_008103.1:g.19806T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.713T>G MANE Select	NP_000194.2:p.Leu238Arg
ENST00000514224.2:c.713T>G MANE Select	ENSP00000425081.2:p.Leu238Arg
NM_000203.4:c.713T>G	NP_000194.2:p.Leu238Arg
NM_001363576.1:c.317T>G	NP_001350505.1:p.Leu106Arg
NR_110313.1:n.801T>G
ENST00000247933.8:c.713T>G	ENSP00000247933.4:p.Leu238Arg
ENST00000247933.9:c.713T>G	ENSP00000247933.4:p.Leu238Arg
ENST00000502910.5:c.572T>G	ENSP00000422952.1:p.Leu191Arg
ENST00000509948.5:c.506T>G	ENSP00000424227.1:p.Leu169Arg
ENST00000514192.5:c.530T>G	ENSP00000423685.1:p.Leu177Arg
ENST00000514224.1:c.317T>G	ENSP00000425081.1:p.Leu106Arg
ENST00000514698.5:n.613T>G
ENST00000652070.1:n.769T>G
XM_006713882.2:c.317T>G	XP_006713945.1:p.Leu106Arg
XM_011513459.1:c.572T>G	XP_011511761.1:p.Leu191Arg
XM_011513460.1:c.572T>G	XP_011511762.1:p.Leu191Arg
XM_011513461.1:c.506T>G	XP_011511763.1:p.Leu169Arg
XM_011513461.2:c.506T>G	XP_011511763.1:p.Leu169Arg
XM_011513462.1:c.425T>G	XP_011511764.1:p.Leu142Arg
XM_011513463.1:c.425T>G	XP_011511765.1:p.Leu142Arg
XM_017008163.1:c.-248T>G	XP_016863652.1:n.-248T>G
XR_924947.1:n.782T>G