Canonical Allele Identifier: CA355965086

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997233C>A (hg19) ; chr4:g.1003445C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003445C>A , CM000666.2:g.1003445C>A	GRCh38
NC_000004.11:g.997233C>A , CM000666.1:g.997233C>A	GRCh37
NC_000004.10:g.987233C>A	NCBI36
NG_008103.1:g.21449C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1625C>A	ENSP00000247933.4:p.Ala542Glu
ENST00000514224.2:c.1625C>A MANE Select	ENSP00000425081.2:p.Ala542Glu
ENST00000652070.1:n.1681C>A
ENST00000247933.8:c.1625C>A	ENSP00000247933.4:p.Ala542Glu
ENST00000514224.1:c.1229C>A	ENSP00000425081.1:p.Ala410Glu
ENST00000514417.1:n.17C>A
ENST00000514698.5:n.1732C>A
NM_000203.4:c.1625C>A	NP_000194.2:p.Ala542Glu
NR_110313.1:n.1713C>A
XM_006713882.2:c.1229C>A	XP_006713945.1:p.Ala410Glu
XM_011513459.1:c.1691C>A	XP_011511761.1:p.Ala564Glu
XM_011513460.1:c.1484C>A	XP_011511762.1:p.Ala495Glu
XM_011513461.1:c.1418C>A	XP_011511763.1:p.Ala473Glu
XM_011513462.1:c.1337C>A	XP_011511764.1:p.Ala446Glu
XM_011513463.1:c.1337C>A	XP_011511765.1:p.Ala446Glu
XR_924947.1:n.1881C>A
NM_000203.5:c.1625C>A MANE Select	NP_000194.2:p.Ala542Glu
NM_001363576.1:c.1229C>A	NP_001350505.1:p.Ala410Glu
XM_011513461.2:c.1418C>A	XP_011511763.1:p.Ala473Glu
XM_017008163.1:c.665C>A	XP_016863652.1:p.Ala222Glu