Canonical Allele Identifier: CA1433071811

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003404C= , CM000666.2:g.1003404C=	GRCh38
NC_000004.11:g.997192C= , CM000666.1:g.997192C=	GRCh37
NC_000004.10:g.987192C=	NCBI36
NG_008103.1:g.21408C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1584C=	ENSP00000247933.4:p.Pro528=
ENST00000514224.2:c.1584C= MANE Select	ENSP00000425081.2:p.Pro528=
ENST00000652070.1:n.1640C=
ENST00000247933.8:c.1584C=	ENSP00000247933.4:p.Pro528=
ENST00000514224.1:c.1188C=	ENSP00000425081.1:p.Pro396=
ENST00000514698.5:n.1691C=
NM_000203.4:c.1584C=	NP_000194.2:p.Pro528=
NR_110313.1:n.1672C=
XM_006713882.2:c.1188C=	XP_006713945.1:p.Pro396=
XM_011513459.1:c.1650C=	XP_011511761.1:p.Pro550=
XM_011513460.1:c.1443C=	XP_011511762.1:p.Pro481=
XM_011513461.1:c.1377C=	XP_011511763.1:p.Pro459=
XM_011513462.1:c.1296C=	XP_011511764.1:p.Pro432=
XM_011513463.1:c.1296C=	XP_011511765.1:p.Pro432=
XR_924947.1:n.1840C=
NM_000203.5:c.1584C= MANE Select	NP_000194.2:p.Pro528=
NM_001363576.1:c.1188C=	NP_001350505.1:p.Pro396=
XM_011513461.2:c.1377C=	XP_011511763.1:p.Pro459=
XM_017008163.1:c.624C=	XP_016863652.1:p.Pro208=