Canonical Allele Identifier: CA438058006

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1616197
• ClinVar RCV Id: RCV002084133
• dbSNP Id: rs1051037909
• MyVariant Identifiers: chr4:g.997348C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003560C>A , CM000666.2:g.1003560C>A	GRCh38
NC_000004.11:g.997348C>A , CM000666.1:g.997348C>A	GRCh37
NC_000004.10:g.987348C>A	NCBI36
NG_008103.1:g.21564C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1662C>A	ENSP00000247933.4:p.Leu554=
ENST00000514224.2:c.1662C>A MANE Select	ENSP00000425081.2:p.Leu554=
ENST00000652070.1:n.1718C>A
ENST00000247933.8:c.1662C>A	ENSP00000247933.4:p.Leu554=
ENST00000514224.1:c.1266C>A	ENSP00000425081.1:p.Leu422=
ENST00000514417.1:n.54C>A
ENST00000514698.5:n.1769C>A
NM_000203.4:c.1662C>A	NP_000194.2:p.Leu554=
NR_110313.1:n.1750C>A
XM_006713882.2:c.1266C>A	XP_006713945.1:p.Leu422=
XM_011513459.1:c.1728C>A	XP_011511761.1:p.Leu576=
XM_011513460.1:c.1521C>A	XP_011511762.1:p.Leu507=
XM_011513461.1:c.1455C>A	XP_011511763.1:p.Leu485=
XM_011513462.1:c.1374C>A	XP_011511764.1:p.Leu458=
XM_011513463.1:c.1374C>A	XP_011511765.1:p.Leu458=
XR_924947.1:n.1918C>A
NM_000203.5:c.1662C>A MANE Select	NP_000194.2:p.Leu554=
NM_001363576.1:c.1266C>A	NP_001350505.1:p.Leu422=
XM_011513461.2:c.1455C>A	XP_011511763.1:p.Leu485=
XM_017008163.1:c.702C>A	XP_016863652.1:p.Leu234=