Canonical Allele Identifier: CA355961775

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995323C>A (hg19) ; chr4:g.1001535C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001535C>A , CM000666.2:g.1001535C>A	GRCh38
NC_000004.11:g.995323C>A , CM000666.1:g.995323C>A	GRCh37
NC_000004.10:g.985323C>A	NCBI36
NG_008103.1:g.19539C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.561C>A	ENSP00000247933.4:p.Asp187Glu
ENST00000514224.2:c.561C>A MANE Select	ENSP00000425081.2:p.Asp187Glu
ENST00000652070.1:n.617C>A
ENST00000247933.8:c.561C>A	ENSP00000247933.4:p.Asp187Glu
ENST00000502910.5:c.420C>A	ENSP00000422952.1:p.Asp140Glu
ENST00000504568.5:c.521C>A
ENST00000509948.5:c.354C>A	ENSP00000424227.1:p.Asp118Glu
ENST00000514192.5:c.378C>A	ENSP00000423685.1:p.Asp126Glu
ENST00000514224.1:c.165C>A	ENSP00000425081.1:p.Asp55Glu
ENST00000514698.5:n.461C>A
NM_000203.4:c.561C>A	NP_000194.2:p.Asp187Glu
NR_110313.1:n.649C>A
XM_006713882.2:c.165C>A	XP_006713945.1:p.Asp55Glu
XM_011513459.1:c.420C>A	XP_011511761.1:p.Asp140Glu
XM_011513460.1:c.420C>A	XP_011511762.1:p.Asp140Glu
XM_011513461.1:c.354C>A	XP_011511763.1:p.Asp118Glu
XM_011513462.1:c.273C>A	XP_011511764.1:p.Asp91Glu
XM_011513463.1:c.273C>A	XP_011511765.1:p.Asp91Glu
XR_924947.1:n.630C>A
NM_000203.5:c.561C>A MANE Select	NP_000194.2:p.Asp187Glu
NM_001363576.1:c.165C>A	NP_001350505.1:p.Asp55Glu
XM_011513461.2:c.354C>A	XP_011511763.1:p.Asp118Glu
XM_017008163.1:c.-428C>A	XP_016863652.1:n.-428C>A