Canonical Allele Identifier: CA355963307

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002384G>T , CM000666.2:g.1002384G>T	GRCh38
NC_000004.11:g.996172G>T , CM000666.1:g.996172G>T	GRCh37
NC_000004.10:g.986172G>T	NCBI36
NG_008103.1:g.20388G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1088G>T MANE Select	NP_000194.2:p.Arg363Leu
ENST00000514224.2:c.1088G>T MANE Select	ENSP00000425081.2:p.Arg363Leu
NM_000203.4:c.1088G>T	NP_000194.2:p.Arg363Leu
NM_001363576.1:c.692G>T	NP_001350505.1:p.Arg231Leu
NR_110313.1:n.1176G>T
ENST00000247933.8:c.1088G>T	ENSP00000247933.4:p.Arg363Leu
ENST00000247933.9:c.1088G>T	ENSP00000247933.4:p.Arg363Leu
ENST00000514224.1:c.692G>T	ENSP00000425081.1:p.Arg231Leu
ENST00000514698.5:n.1195G>T
ENST00000652070.1:n.1144G>T
XM_006713882.2:c.692G>T	XP_006713945.1:p.Arg231Leu
XM_011513459.1:c.1154G>T	XP_011511761.1:p.Arg385Leu
XM_011513460.1:c.947G>T	XP_011511762.1:p.Arg316Leu
XM_011513461.1:c.881G>T	XP_011511763.1:p.Arg294Leu
XM_011513461.2:c.881G>T	XP_011511763.1:p.Arg294Leu
XM_011513462.1:c.800G>T	XP_011511764.1:p.Arg267Leu
XM_011513463.1:c.800G>T	XP_011511765.1:p.Arg267Leu
XM_017008163.1:c.128G>T	XP_016863652.1:p.Arg43Leu
XR_924947.1:n.1157G>T