Canonical Allele Identifier: CA1433072248

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003617G= , CM000666.2:g.1003617G=	GRCh38
NC_000004.11:g.997405G= , CM000666.1:g.997405G=	GRCh37
NC_000004.10:g.987405G=	NCBI36
NG_008103.1:g.21621G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1719G=	ENSP00000247933.4:p.Val573=
ENST00000514224.2:c.1719G= MANE Select	ENSP00000425081.2:p.Val573=
ENST00000652070.1:n.1775G=
ENST00000247933.8:c.1719G=	ENSP00000247933.4:p.Val573=
ENST00000514224.1:c.1323G=	ENSP00000425081.1:p.Val441=
ENST00000514417.1:n.111G=
ENST00000514698.5:n.1826G=
NM_000203.4:c.1719G=	NP_000194.2:p.Val573=
NR_110313.1:n.1807G=
XM_006713882.2:c.1323G=	XP_006713945.1:p.Val441=
XM_011513459.1:c.1785G=	XP_011511761.1:p.Val595=
XM_011513460.1:c.1578G=	XP_011511762.1:p.Val526=
XM_011513461.1:c.1512G=	XP_011511763.1:p.Val504=
XM_011513462.1:c.1431G=	XP_011511764.1:p.Val477=
XM_011513463.1:c.1431G=	XP_011511765.1:p.Val477=
XR_924947.1:n.1975G=
NM_000203.5:c.1719G= MANE Select	NP_000194.2:p.Val573=
NM_001363576.1:c.1323G=	NP_001350505.1:p.Val441=
XM_011513461.2:c.1512G=	XP_011511763.1:p.Val504=
XM_017008163.1:c.759G=	XP_016863652.1:p.Val253=