Canonical Allele Identifier: CA1433072244

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003615G= , CM000666.2:g.1003615G=	GRCh38
NC_000004.11:g.997403G= , CM000666.1:g.997403G=	GRCh37
NC_000004.10:g.987403G=	NCBI36
NG_008103.1:g.21619G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1717G=	ENSP00000247933.4:p.Val573=
ENST00000514224.2:c.1717G= MANE Select	ENSP00000425081.2:p.Val573=
ENST00000652070.1:n.1773G=
ENST00000247933.8:c.1717G=	ENSP00000247933.4:p.Val573=
ENST00000514224.1:c.1321G=	ENSP00000425081.1:p.Val441=
ENST00000514417.1:n.109G=
ENST00000514698.5:n.1824G=
NM_000203.4:c.1717G=	NP_000194.2:p.Val573=
NR_110313.1:n.1805G=
XM_006713882.2:c.1321G=	XP_006713945.1:p.Val441=
XM_011513459.1:c.1783G=	XP_011511761.1:p.Val595=
XM_011513460.1:c.1576G=	XP_011511762.1:p.Val526=
XM_011513461.1:c.1510G=	XP_011511763.1:p.Val504=
XM_011513462.1:c.1429G=	XP_011511764.1:p.Val477=
XM_011513463.1:c.1429G=	XP_011511765.1:p.Val477=
XR_924947.1:n.1973G=
NM_000203.5:c.1717G= MANE Select	NP_000194.2:p.Val573=
NM_001363576.1:c.1321G=	NP_001350505.1:p.Val441=
XM_011513461.2:c.1510G=	XP_011511763.1:p.Val504=
XM_017008163.1:c.757G=	XP_016863652.1:p.Val253=