Canonical Allele Identifier: CA355961968

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995512C>A (hg19) ; chr4:g.1001724C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001724C>A , CM000666.2:g.1001724C>A	GRCh38
NC_000004.11:g.995512C>A , CM000666.1:g.995512C>A	GRCh37
NC_000004.10:g.985512C>A	NCBI36
NG_008103.1:g.19728C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.635C>A	ENSP00000247933.4:p.Ala212Asp
ENST00000514224.2:c.635C>A MANE Select	ENSP00000425081.2:p.Ala212Asp
ENST00000652070.1:n.691C>A
ENST00000247933.8:c.635C>A	ENSP00000247933.4:p.Ala212Asp
ENST00000502910.5:c.494C>A	ENSP00000422952.1:p.Ala165Asp
ENST00000509948.5:c.428C>A	ENSP00000424227.1:p.Ala143Asp
ENST00000514192.5:c.452C>A	ENSP00000423685.1:p.Ala151Asp
ENST00000514224.1:c.239C>A	ENSP00000425081.1:p.Ala80Asp
ENST00000514698.5:n.535C>A
NM_000203.4:c.635C>A	NP_000194.2:p.Ala212Asp
NR_110313.1:n.723C>A
XM_006713882.2:c.239C>A	XP_006713945.1:p.Ala80Asp
XM_011513459.1:c.494C>A	XP_011511761.1:p.Ala165Asp
XM_011513460.1:c.494C>A	XP_011511762.1:p.Ala165Asp
XM_011513461.1:c.428C>A	XP_011511763.1:p.Ala143Asp
XM_011513462.1:c.347C>A	XP_011511764.1:p.Ala116Asp
XM_011513463.1:c.347C>A	XP_011511765.1:p.Ala116Asp
XR_924947.1:n.704C>A
NM_000203.5:c.635C>A MANE Select	NP_000194.2:p.Ala212Asp
NM_001363576.1:c.239C>A	NP_001350505.1:p.Ala80Asp
XM_011513461.2:c.428C>A	XP_011511763.1:p.Ala143Asp
XM_017008163.1:c.-326C>A	XP_016863652.1:n.-326C>A