Canonical Allele Identifier: CA355961819

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001554A>T , CM000666.2:g.1001554A>T	GRCh38
NC_000004.11:g.995342A>T , CM000666.1:g.995342A>T	GRCh37
NC_000004.10:g.985342A>T	NCBI36
NG_008103.1:g.19558A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.580A>T MANE Select	NP_000194.2:p.Thr194Ser
ENST00000514224.2:c.580A>T MANE Select	ENSP00000425081.2:p.Thr194Ser
NM_000203.4:c.580A>T	NP_000194.2:p.Thr194Ser
NM_001363576.1:c.184A>T	NP_001350505.1:p.Thr62Ser
NR_110313.1:n.668A>T
ENST00000247933.8:c.580A>T	ENSP00000247933.4:p.Thr194Ser
ENST00000247933.9:c.580A>T	ENSP00000247933.4:p.Thr194Ser
ENST00000502910.5:c.439A>T	ENSP00000422952.1:p.Thr147Ser
ENST00000504568.5:c.540A>T
ENST00000509948.5:c.373A>T	ENSP00000424227.1:p.Thr125Ser
ENST00000514192.5:c.397A>T	ENSP00000423685.1:p.Thr133Ser
ENST00000514224.1:c.184A>T	ENSP00000425081.1:p.Thr62Ser
ENST00000514698.5:n.480A>T
ENST00000652070.1:n.636A>T
XM_006713882.2:c.184A>T	XP_006713945.1:p.Thr62Ser
XM_011513459.1:c.439A>T	XP_011511761.1:p.Thr147Ser
XM_011513460.1:c.439A>T	XP_011511762.1:p.Thr147Ser
XM_011513461.1:c.373A>T	XP_011511763.1:p.Thr125Ser
XM_011513461.2:c.373A>T	XP_011511763.1:p.Thr125Ser
XM_011513462.1:c.292A>T	XP_011511764.1:p.Thr98Ser
XM_011513463.1:c.292A>T	XP_011511765.1:p.Thr98Ser
XM_017008163.1:c.-409A>T	XP_016863652.1:n.-409A>T
XR_924947.1:n.649A>T