Canonical Allele Identifier: CA355963739

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002809A>C , CM000666.2:g.1002809A>C	GRCh38
NC_000004.11:g.996597A>C , CM000666.1:g.996597A>C	GRCh37
NC_000004.10:g.986597A>C	NCBI36
NG_008103.1:g.20813A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1267A>C MANE Select	NP_000194.2:p.Ser423Arg
ENST00000514224.2:c.1267A>C MANE Select	ENSP00000425081.2:p.Ser423Arg
NM_000203.4:c.1267A>C	NP_000194.2:p.Ser423Arg
NM_001363576.1:c.871A>C	NP_001350505.1:p.Ser291Arg
NR_110313.1:n.1355A>C
ENST00000247933.8:c.1267A>C	ENSP00000247933.4:p.Ser423Arg
ENST00000247933.9:c.1267A>C	ENSP00000247933.4:p.Ser423Arg
ENST00000502829.1:n.69A>C
ENST00000514224.1:c.871A>C	ENSP00000425081.1:p.Ser291Arg
ENST00000514698.5:n.1374A>C
ENST00000652070.1:n.1323A>C
XM_006713882.2:c.871A>C	XP_006713945.1:p.Ser291Arg
XM_011513459.1:c.1333A>C	XP_011511761.1:p.Ser445Arg
XM_011513460.1:c.1126A>C	XP_011511762.1:p.Ser376Arg
XM_011513461.1:c.1060A>C	XP_011511763.1:p.Ser354Arg
XM_011513461.2:c.1060A>C	XP_011511763.1:p.Ser354Arg
XM_011513462.1:c.979A>C	XP_011511764.1:p.Ser327Arg
XM_011513463.1:c.979A>C	XP_011511765.1:p.Ser327Arg
XM_017008163.1:c.307A>C	XP_016863652.1:p.Ser103Arg
XR_924947.1:n.1336A>C