Canonical Allele Identifier: CA1433071895

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003469A= , CM000666.2:g.1003469A=	GRCh38
NC_000004.11:g.997257A= , CM000666.1:g.997257A=	GRCh37
NC_000004.10:g.987257A=	NCBI36
NG_008103.1:g.21473A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1649A=	ENSP00000247933.4:p.Gln550=
ENST00000514224.2:c.1649A= MANE Select	ENSP00000425081.2:p.Gln550=
ENST00000652070.1:n.1705A=
ENST00000247933.8:c.1649A=	ENSP00000247933.4:p.Gln550=
ENST00000514224.1:c.1253A=	ENSP00000425081.1:p.Gln418=
ENST00000514417.1:n.41A=
ENST00000514698.5:n.1756A=
NM_000203.4:c.1649A=	NP_000194.2:p.Gln550=
NR_110313.1:n.1737A=
XM_006713882.2:c.1253A=	XP_006713945.1:p.Gln418=
XM_011513459.1:c.1715A=	XP_011511761.1:p.Gln572=
XM_011513460.1:c.1508A=	XP_011511762.1:p.Gln503=
XM_011513461.1:c.1442A=	XP_011511763.1:p.Gln481=
XM_011513462.1:c.1361A=	XP_011511764.1:p.Gln454=
XM_011513463.1:c.1361A=	XP_011511765.1:p.Gln454=
XR_924947.1:n.1905A=
NM_000203.5:c.1649A= MANE Select	NP_000194.2:p.Gln550=
NM_001363576.1:c.1253A=	NP_001350505.1:p.Gln418=
XM_011513461.2:c.1442A=	XP_011511763.1:p.Gln481=
XM_017008163.1:c.689A=	XP_016863652.1:p.Gln230=