Canonical Allele Identifier: CA355965028

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003418C>A , CM000666.2:g.1003418C>A	GRCh38
NC_000004.11:g.997206C>A , CM000666.1:g.997206C>A	GRCh37
NC_000004.10:g.987206C>A	NCBI36
NG_008103.1:g.21422C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1598C>A MANE Select	NP_000194.2:p.Pro533Gln
ENST00000514224.2:c.1598C>A MANE Select	ENSP00000425081.2:p.Pro533Gln
NM_000203.4:c.1598C>A	NP_000194.2:p.Pro533Gln
NM_001363576.1:c.1202C>A	NP_001350505.1:p.Pro401Gln
NR_110313.1:n.1686C>A
ENST00000247933.8:c.1598C>A	ENSP00000247933.4:p.Pro533Gln
ENST00000247933.9:c.1598C>A	ENSP00000247933.4:p.Pro533Gln
ENST00000514224.1:c.1202C>A	ENSP00000425081.1:p.Pro401Gln
ENST00000514698.5:n.1705C>A
ENST00000652070.1:n.1654C>A
XM_006713882.2:c.1202C>A	XP_006713945.1:p.Pro401Gln
XM_011513459.1:c.1664C>A	XP_011511761.1:p.Pro555Gln
XM_011513460.1:c.1457C>A	XP_011511762.1:p.Pro486Gln
XM_011513461.1:c.1391C>A	XP_011511763.1:p.Pro464Gln
XM_011513461.2:c.1391C>A	XP_011511763.1:p.Pro464Gln
XM_011513462.1:c.1310C>A	XP_011511764.1:p.Pro437Gln
XM_011513463.1:c.1310C>A	XP_011511765.1:p.Pro437Gln
XM_017008163.1:c.638C>A	XP_016863652.1:p.Pro213Gln
XR_924947.1:n.1854C>A