Canonical Allele Identifier: CA355964662

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003108G>A , CM000666.2:g.1003108G>A	GRCh38
NC_000004.11:g.996896G>A , CM000666.1:g.996896G>A	GRCh37
NC_000004.10:g.986896G>A	NCBI36
NG_008103.1:g.21112G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1475G>A MANE Select	NP_000194.2:p.Arg492Gln
ENST00000514224.2:c.1475G>A MANE Select	ENSP00000425081.2:p.Arg492Gln
NM_000203.4:c.1475G>A	NP_000194.2:p.Arg492Gln
NM_001363576.1:c.1079G>A	NP_001350505.1:p.Arg360Gln
NR_110313.1:n.1563G>A
ENST00000247933.8:c.1475G>A	ENSP00000247933.4:p.Arg492Gln
ENST00000247933.9:c.1475G>A	ENSP00000247933.4:p.Arg492Gln
ENST00000502829.1:n.277G>A
ENST00000514224.1:c.1079G>A	ENSP00000425081.1:p.Arg360Gln
ENST00000514698.5:n.1582G>A
ENST00000652070.1:n.1531G>A
XM_006713882.2:c.1079G>A	XP_006713945.1:p.Arg360Gln
XM_011513459.1:c.1541G>A	XP_011511761.1:p.Arg514Gln
XM_011513460.1:c.1334G>A	XP_011511762.1:p.Arg445Gln
XM_011513461.1:c.1268G>A	XP_011511763.1:p.Arg423Gln
XM_011513461.2:c.1268G>A	XP_011511763.1:p.Arg423Gln
XM_011513462.1:c.1187G>A	XP_011511764.1:p.Arg396Gln
XM_011513463.1:c.1187G>A	XP_011511765.1:p.Arg396Gln
XM_017008163.1:c.515G>A	XP_016863652.1:p.Arg172Gln
XR_924947.1:n.1544G>A