Canonical Allele Identifier: CA355961726

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001514G>T , CM000666.2:g.1001514G>T	GRCh38
NC_000004.11:g.995302G>T , CM000666.1:g.995302G>T	GRCh37
NC_000004.10:g.985302G>T	NCBI36
NG_008103.1:g.19518G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.540G>T MANE Select	NP_000194.2:p.Trp180Cys
ENST00000514224.2:c.540G>T MANE Select	ENSP00000425081.2:p.Trp180Cys
NM_000203.4:c.540G>T	NP_000194.2:p.Trp180Cys
NM_001363576.1:c.144G>T	NP_001350505.1:p.Trp48Cys
NR_110313.1:n.628G>T
ENST00000247933.8:c.540G>T	ENSP00000247933.4:p.Trp180Cys
ENST00000247933.9:c.540G>T	ENSP00000247933.4:p.Trp180Cys
ENST00000502910.5:c.399G>T	ENSP00000422952.1:p.Trp133Cys
ENST00000504568.5:c.500G>T
ENST00000509948.5:c.333G>T	ENSP00000424227.1:p.Trp111Cys
ENST00000514192.5:c.357G>T	ENSP00000423685.1:p.Trp119Cys
ENST00000514224.1:c.144G>T	ENSP00000425081.1:p.Trp48Cys
ENST00000514698.5:n.440G>T
ENST00000652070.1:n.596G>T
XM_006713882.2:c.144G>T	XP_006713945.1:p.Trp48Cys
XM_011513459.1:c.399G>T	XP_011511761.1:p.Trp133Cys
XM_011513460.1:c.399G>T	XP_011511762.1:p.Trp133Cys
XM_011513461.1:c.333G>T	XP_011511763.1:p.Trp111Cys
XM_011513461.2:c.333G>T	XP_011511763.1:p.Trp111Cys
XM_011513462.1:c.252G>T	XP_011511764.1:p.Trp84Cys
XM_011513463.1:c.252G>T	XP_011511765.1:p.Trp84Cys
XM_017008163.1:c.-449G>T	XP_016863652.1:n.-449G>T
XR_924947.1:n.609G>T