Canonical Allele Identifier: CA355961927

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001702T>G , CM000666.2:g.1001702T>G	GRCh38
NC_000004.11:g.995490T>G , CM000666.1:g.995490T>G	GRCh37
NC_000004.10:g.985490T>G	NCBI36
NG_008103.1:g.19706T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.613T>G MANE Select	NP_000194.2:p.Cys205Gly
ENST00000514224.2:c.613T>G MANE Select	ENSP00000425081.2:p.Cys205Gly
NM_000203.4:c.613T>G	NP_000194.2:p.Cys205Gly
NM_001363576.1:c.217T>G	NP_001350505.1:p.Cys73Gly
NR_110313.1:n.701T>G
ENST00000247933.8:c.613T>G	ENSP00000247933.4:p.Cys205Gly
ENST00000247933.9:c.613T>G	ENSP00000247933.4:p.Cys205Gly
ENST00000502910.5:c.472T>G	ENSP00000422952.1:p.Cys158Gly
ENST00000504568.5:c.573T>G
ENST00000509948.5:c.406T>G	ENSP00000424227.1:p.Cys136Gly
ENST00000514192.5:c.430T>G	ENSP00000423685.1:p.Cys144Gly
ENST00000514224.1:c.217T>G	ENSP00000425081.1:p.Cys73Gly
ENST00000514698.5:n.513T>G
ENST00000652070.1:n.669T>G
XM_006713882.2:c.217T>G	XP_006713945.1:p.Cys73Gly
XM_011513459.1:c.472T>G	XP_011511761.1:p.Cys158Gly
XM_011513460.1:c.472T>G	XP_011511762.1:p.Cys158Gly
XM_011513461.1:c.406T>G	XP_011511763.1:p.Cys136Gly
XM_011513461.2:c.406T>G	XP_011511763.1:p.Cys136Gly
XM_011513462.1:c.325T>G	XP_011511764.1:p.Cys109Gly
XM_011513463.1:c.325T>G	XP_011511765.1:p.Cys109Gly
XM_017008163.1:c.-348T>G	XP_016863652.1:n.-348T>G
XR_924947.1:n.682T>G