Canonical Allele Identifier: CA1433071888

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003464C= , CM000666.2:g.1003464C=	GRCh38
NC_000004.11:g.997252C= , CM000666.1:g.997252C=	GRCh37
NC_000004.10:g.987252C=	NCBI36
NG_008103.1:g.21468C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1644C=	ENSP00000247933.4:p.Pro548=
ENST00000514224.2:c.1644C= MANE Select	ENSP00000425081.2:p.Pro548=
ENST00000652070.1:n.1700C=
ENST00000247933.8:c.1644C=	ENSP00000247933.4:p.Pro548=
ENST00000514224.1:c.1248C=	ENSP00000425081.1:p.Pro416=
ENST00000514417.1:n.36C=
ENST00000514698.5:n.1751C=
NM_000203.4:c.1644C=	NP_000194.2:p.Pro548=
NR_110313.1:n.1732C=
XM_006713882.2:c.1248C=	XP_006713945.1:p.Pro416=
XM_011513459.1:c.1710C=	XP_011511761.1:p.Pro570=
XM_011513460.1:c.1503C=	XP_011511762.1:p.Pro501=
XM_011513461.1:c.1437C=	XP_011511763.1:p.Pro479=
XM_011513462.1:c.1356C=	XP_011511764.1:p.Pro452=
XM_011513463.1:c.1356C=	XP_011511765.1:p.Pro452=
XR_924947.1:n.1900C=
NM_000203.5:c.1644C= MANE Select	NP_000194.2:p.Pro548=
NM_001363576.1:c.1248C=	NP_001350505.1:p.Pro416=
XM_011513461.2:c.1437C=	XP_011511763.1:p.Pro479=
XM_017008163.1:c.684C=	XP_016863652.1:p.Pro228=