Canonical Allele Identifier: CA1433071789

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003370C= , CM000666.2:g.1003370C=	GRCh38
NC_000004.11:g.997158C= , CM000666.1:g.997158C=	GRCh37
NC_000004.10:g.987158C=	NCBI36
NG_008103.1:g.21374C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1550C=	ENSP00000247933.4:p.Pro517=
ENST00000514224.2:c.1550C= MANE Select	ENSP00000425081.2:p.Pro517=
ENST00000652070.1:n.1606C=
ENST00000247933.8:c.1550C=	ENSP00000247933.4:p.Pro517=
ENST00000502829.1:n.539C=
ENST00000514224.1:c.1154C=	ENSP00000425081.1:p.Pro385=
ENST00000514698.5:n.1657C=
NM_000203.4:c.1550C=	NP_000194.2:p.Pro517=
NR_110313.1:n.1638C=
XM_006713882.2:c.1154C=	XP_006713945.1:p.Pro385=
XM_011513459.1:c.1616C=	XP_011511761.1:p.Pro539=
XM_011513460.1:c.1409C=	XP_011511762.1:p.Pro470=
XM_011513461.1:c.1343C=	XP_011511763.1:p.Pro448=
XM_011513462.1:c.1262C=	XP_011511764.1:p.Pro421=
XM_011513463.1:c.1262C=	XP_011511765.1:p.Pro421=
XR_924947.1:n.1806C=
NM_000203.5:c.1550C= MANE Select	NP_000194.2:p.Pro517=
NM_001363576.1:c.1154C=	NP_001350505.1:p.Pro385=
XM_011513461.2:c.1343C=	XP_011511763.1:p.Pro448=
XM_017008163.1:c.590C=	XP_016863652.1:p.Pro197=