Canonical Allele Identifier: CA355963424

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002443C>T , CM000666.2:g.1002443C>T	GRCh38
NC_000004.11:g.996231C>T , CM000666.1:g.996231C>T	GRCh37
NC_000004.10:g.986231C>T	NCBI36
NG_008103.1:g.20447C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1147C>T MANE Select	NP_000194.2:p.Arg383Cys
ENST00000514224.2:c.1147C>T MANE Select	ENSP00000425081.2:p.Arg383Cys
NM_000203.4:c.1147C>T	NP_000194.2:p.Arg383Cys
NM_001363576.1:c.751C>T	NP_001350505.1:p.Arg251Cys
NR_110313.1:n.1235C>T
ENST00000247933.8:c.1147C>T	ENSP00000247933.4:p.Arg383Cys
ENST00000247933.9:c.1147C>T	ENSP00000247933.4:p.Arg383Cys
ENST00000514224.1:c.751C>T	ENSP00000425081.1:p.Arg251Cys
ENST00000514698.5:n.1254C>T
ENST00000652070.1:n.1203C>T
XM_006713882.2:c.751C>T	XP_006713945.1:p.Arg251Cys
XM_011513459.1:c.1213C>T	XP_011511761.1:p.Arg405Cys
XM_011513460.1:c.1006C>T	XP_011511762.1:p.Arg336Cys
XM_011513461.1:c.940C>T	XP_011511763.1:p.Arg314Cys
XM_011513461.2:c.940C>T	XP_011511763.1:p.Arg314Cys
XM_011513462.1:c.859C>T	XP_011511764.1:p.Arg287Cys
XM_011513463.1:c.859C>T	XP_011511765.1:p.Arg287Cys
XM_017008163.1:c.187C>T	XP_016863652.1:p.Arg63Cys
XR_924947.1:n.1216C>T