Canonical Allele Identifier: CA1433072173

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003587G= , CM000666.2:g.1003587G=	GRCh38
NC_000004.11:g.997375G= , CM000666.1:g.997375G=	GRCh37
NC_000004.10:g.987375G=	NCBI36
NG_008103.1:g.21591G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1689G=	ENSP00000247933.4:p.Gln563=
ENST00000514224.2:c.1689G= MANE Select	ENSP00000425081.2:p.Gln563=
ENST00000652070.1:n.1745G=
ENST00000247933.8:c.1689G=	ENSP00000247933.4:p.Gln563=
ENST00000514224.1:c.1293G=	ENSP00000425081.1:p.Gln431=
ENST00000514417.1:n.81G=
ENST00000514698.5:n.1796G=
NM_000203.4:c.1689G=	NP_000194.2:p.Gln563=
NR_110313.1:n.1777G=
XM_006713882.2:c.1293G=	XP_006713945.1:p.Gln431=
XM_011513459.1:c.1755G=	XP_011511761.1:p.Gln585=
XM_011513460.1:c.1548G=	XP_011511762.1:p.Gln516=
XM_011513461.1:c.1482G=	XP_011511763.1:p.Gln494=
XM_011513462.1:c.1401G=	XP_011511764.1:p.Gln467=
XM_011513463.1:c.1401G=	XP_011511765.1:p.Gln467=
XR_924947.1:n.1945G=
NM_000203.5:c.1689G= MANE Select	NP_000194.2:p.Gln563=
NM_001363576.1:c.1293G=	NP_001350505.1:p.Gln431=
XM_011513461.2:c.1482G=	XP_011511763.1:p.Gln494=
XM_017008163.1:c.729G=	XP_016863652.1:p.Gln243=