Canonical Allele Identifier: CA355965152

Gene: IDUA

Linked Data

• ClinVar Variation Id: 3061994
• ClinVar RCV Id: RCV003985057
• MyVariant Identifiers: chr4:g.997338T>A (hg19) ; chr4:g.1003550T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003550T>A , CM000666.2:g.1003550T>A	GRCh38
NC_000004.11:g.997338T>A , CM000666.1:g.997338T>A	GRCh37
NC_000004.10:g.987338T>A	NCBI36
NG_008103.1:g.21554T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1652T>A	ENSP00000247933.4:p.Val551Asp
ENST00000514224.2:c.1652T>A MANE Select	ENSP00000425081.2:p.Val551Asp
ENST00000652070.1:n.1708T>A
ENST00000247933.8:c.1652T>A	ENSP00000247933.4:p.Val551Asp
ENST00000514224.1:c.1256T>A	ENSP00000425081.1:p.Val419Asp
ENST00000514417.1:n.44T>A
ENST00000514698.5:n.1759T>A
NM_000203.4:c.1652T>A	NP_000194.2:p.Val551Asp
NR_110313.1:n.1740T>A
XM_006713882.2:c.1256T>A	XP_006713945.1:p.Val419Asp
XM_011513459.1:c.1718T>A	XP_011511761.1:p.Val573Asp
XM_011513460.1:c.1511T>A	XP_011511762.1:p.Val504Asp
XM_011513461.1:c.1445T>A	XP_011511763.1:p.Val482Asp
XM_011513462.1:c.1364T>A	XP_011511764.1:p.Val455Asp
XM_011513463.1:c.1364T>A	XP_011511765.1:p.Val455Asp
XR_924947.1:n.1908T>A
NM_000203.5:c.1652T>A MANE Select	NP_000194.2:p.Val551Asp
NM_001363576.1:c.1256T>A	NP_001350505.1:p.Val419Asp
XM_011513461.2:c.1445T>A	XP_011511763.1:p.Val482Asp
XM_017008163.1:c.692T>A	XP_016863652.1:p.Val231Asp