Canonical Allele Identifier: CA355961931

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001704C>A , CM000666.2:g.1001704C>A	GRCh38
NC_000004.11:g.995492C>A , CM000666.1:g.995492C>A	GRCh37
NC_000004.10:g.985492C>A	NCBI36
NG_008103.1:g.19708C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.615C>A MANE Select	NP_000194.2:p.Cys205Ter
ENST00000514224.2:c.615C>A MANE Select	ENSP00000425081.2:p.Cys205Ter
NM_000203.4:c.615C>A	NP_000194.2:p.Cys205Ter
NM_001363576.1:c.219C>A	NP_001350505.1:p.Cys73Ter
NR_110313.1:n.703C>A
ENST00000247933.8:c.615C>A	ENSP00000247933.4:p.Cys205Ter
ENST00000247933.9:c.615C>A	ENSP00000247933.4:p.Cys205Ter
ENST00000502910.5:c.474C>A	ENSP00000422952.1:p.Cys158Ter
ENST00000504568.5:c.575C>A
ENST00000509948.5:c.408C>A	ENSP00000424227.1:p.Cys136Ter
ENST00000514192.5:c.432C>A	ENSP00000423685.1:p.Cys144Ter
ENST00000514224.1:c.219C>A	ENSP00000425081.1:p.Cys73Ter
ENST00000514698.5:n.515C>A
ENST00000652070.1:n.671C>A
XM_006713882.2:c.219C>A	XP_006713945.1:p.Cys73Ter
XM_011513459.1:c.474C>A	XP_011511761.1:p.Cys158Ter
XM_011513460.1:c.474C>A	XP_011511762.1:p.Cys158Ter
XM_011513461.1:c.408C>A	XP_011511763.1:p.Cys136Ter
XM_011513461.2:c.408C>A	XP_011511763.1:p.Cys136Ter
XM_011513462.1:c.327C>A	XP_011511764.1:p.Cys109Ter
XM_011513463.1:c.327C>A	XP_011511765.1:p.Cys109Ter
XM_017008163.1:c.-346C>A	XP_016863652.1:n.-346C>A
XR_924947.1:n.684C>A