Canonical Allele Identifier: CA355964663

Gene: IDUA

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1475G>T MANE Select	NP_000194.2:p.Arg492Leu
ENST00000514224.2:c.1475G>T MANE Select	ENSP00000425081.2:p.Arg492Leu
NM_000203.4:c.1475G>T	NP_000194.2:p.Arg492Leu
NM_001363576.1:c.1079G>T	NP_001350505.1:p.Arg360Leu
NR_110313.1:n.1563G>T
ENST00000247933.8:c.1475G>T	ENSP00000247933.4:p.Arg492Leu
ENST00000247933.9:c.1475G>T	ENSP00000247933.4:p.Arg492Leu
ENST00000502829.1:n.277G>T
ENST00000514224.1:c.1079G>T	ENSP00000425081.1:p.Arg360Leu
ENST00000514698.5:n.1582G>T
ENST00000652070.1:n.1531G>T
XM_006713882.2:c.1079G>T	XP_006713945.1:p.Arg360Leu
XM_011513459.1:c.1541G>T	XP_011511761.1:p.Arg514Leu
XM_011513460.1:c.1334G>T	XP_011511762.1:p.Arg445Leu
XM_011513461.1:c.1268G>T	XP_011511763.1:p.Arg423Leu
XM_011513461.2:c.1268G>T	XP_011511763.1:p.Arg423Leu
XM_011513462.1:c.1187G>T	XP_011511764.1:p.Arg396Leu
XM_011513463.1:c.1187G>T	XP_011511765.1:p.Arg396Leu
XM_017008163.1:c.515G>T	XP_016863652.1:p.Arg172Leu
XR_924947.1:n.1544G>T