Canonical Allele Identifier: CA1433072162

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003580A= , CM000666.2:g.1003580A=	GRCh38
NC_000004.11:g.997368A= , CM000666.1:g.997368A=	GRCh37
NC_000004.10:g.987368A=	NCBI36
NG_008103.1:g.21584A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1682A=	ENSP00000247933.4:p.Gln561=
ENST00000514224.2:c.1682A= MANE Select	ENSP00000425081.2:p.Gln561=
ENST00000652070.1:n.1738A=
ENST00000247933.8:c.1682A=	ENSP00000247933.4:p.Gln561=
ENST00000514224.1:c.1286A=	ENSP00000425081.1:p.Gln429=
ENST00000514417.1:n.74A=
ENST00000514698.5:n.1789A=
NM_000203.4:c.1682A=	NP_000194.2:p.Gln561=
NR_110313.1:n.1770A=
XM_006713882.2:c.1286A=	XP_006713945.1:p.Gln429=
XM_011513459.1:c.1748A=	XP_011511761.1:p.Gln583=
XM_011513460.1:c.1541A=	XP_011511762.1:p.Gln514=
XM_011513461.1:c.1475A=	XP_011511763.1:p.Gln492=
XM_011513462.1:c.1394A=	XP_011511764.1:p.Gln465=
XM_011513463.1:c.1394A=	XP_011511765.1:p.Gln465=
XR_924947.1:n.1938A=
NM_000203.5:c.1682A= MANE Select	NP_000194.2:p.Gln561=
NM_001363576.1:c.1286A=	NP_001350505.1:p.Gln429=
XM_011513461.2:c.1475A=	XP_011511763.1:p.Gln492=
XM_017008163.1:c.722A=	XP_016863652.1:p.Gln241=