Canonical Allele Identifier: CA355965227

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997383T>A (hg19) ; chr4:g.1003595T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003595T>A , CM000666.2:g.1003595T>A	GRCh38
NC_000004.11:g.997383T>A , CM000666.1:g.997383T>A	GRCh37
NC_000004.10:g.987383T>A	NCBI36
NG_008103.1:g.21599T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1697T>A	ENSP00000247933.4:p.Leu566Gln
ENST00000514224.2:c.1697T>A MANE Select	ENSP00000425081.2:p.Leu566Gln
ENST00000652070.1:n.1753T>A
ENST00000247933.8:c.1697T>A	ENSP00000247933.4:p.Leu566Gln
ENST00000514224.1:c.1301T>A	ENSP00000425081.1:p.Leu434Gln
ENST00000514417.1:n.89T>A
ENST00000514698.5:n.1804T>A
NM_000203.4:c.1697T>A	NP_000194.2:p.Leu566Gln
NR_110313.1:n.1785T>A
XM_006713882.2:c.1301T>A	XP_006713945.1:p.Leu434Gln
XM_011513459.1:c.1763T>A	XP_011511761.1:p.Leu588Gln
XM_011513460.1:c.1556T>A	XP_011511762.1:p.Leu519Gln
XM_011513461.1:c.1490T>A	XP_011511763.1:p.Leu497Gln
XM_011513462.1:c.1409T>A	XP_011511764.1:p.Leu470Gln
XM_011513463.1:c.1409T>A	XP_011511765.1:p.Leu470Gln
XR_924947.1:n.1953T>A
NM_000203.5:c.1697T>A MANE Select	NP_000194.2:p.Leu566Gln
NM_001363576.1:c.1301T>A	NP_001350505.1:p.Leu434Gln
XM_011513461.2:c.1490T>A	XP_011511763.1:p.Leu497Gln
XM_017008163.1:c.737T>A	XP_016863652.1:p.Leu246Gln