Canonical Allele Identifier: CA355965079

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003443T>A , CM000666.2:g.1003443T>A	GRCh38
NC_000004.11:g.997231T>A , CM000666.1:g.997231T>A	GRCh37
NC_000004.10:g.987231T>A	NCBI36
NG_008103.1:g.21447T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1623T>A MANE Select	NP_000194.2:p.Cys541Ter
ENST00000514224.2:c.1623T>A MANE Select	ENSP00000425081.2:p.Cys541Ter
NM_000203.4:c.1623T>A	NP_000194.2:p.Cys541Ter
NM_001363576.1:c.1227T>A	NP_001350505.1:p.Cys409Ter
NR_110313.1:n.1711T>A
ENST00000247933.8:c.1623T>A	ENSP00000247933.4:p.Cys541Ter
ENST00000247933.9:c.1623T>A	ENSP00000247933.4:p.Cys541Ter
ENST00000514224.1:c.1227T>A	ENSP00000425081.1:p.Cys409Ter
ENST00000514417.1:n.15T>A
ENST00000514698.5:n.1730T>A
ENST00000652070.1:n.1679T>A
XM_006713882.2:c.1227T>A	XP_006713945.1:p.Cys409Ter
XM_011513459.1:c.1689T>A	XP_011511761.1:p.Cys563Ter
XM_011513460.1:c.1482T>A	XP_011511762.1:p.Cys494Ter
XM_011513461.1:c.1416T>A	XP_011511763.1:p.Cys472Ter
XM_011513461.2:c.1416T>A	XP_011511763.1:p.Cys472Ter
XM_011513462.1:c.1335T>A	XP_011511764.1:p.Cys445Ter
XM_011513463.1:c.1335T>A	XP_011511765.1:p.Cys445Ter
XM_017008163.1:c.663T>A	XP_016863652.1:p.Cys221Ter
XR_924947.1:n.1879T>A