Canonical Allele Identifier: CA2739858924

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002189C>A , CM000666.2:g.1002189C>A	GRCh38
NC_000004.11:g.995977C>A , CM000666.1:g.995977C>A	GRCh37
NC_000004.10:g.985977C>A	NCBI36
NG_008103.1:g.20193C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.972+28C>A	ENSP00000247933.4:n.972+28C>A
ENST00000514224.2:c.972+28C>A MANE Select	ENSP00000425081.2:n.972+28C>A
ENST00000652070.1:n.1028+28C>A
ENST00000247933.8:c.972+28C>A	ENSP00000247933.4:n.972+28C>A
ENST00000514224.1:c.576+28C>A	ENSP00000425081.1:n.576+28C>A
ENST00000514698.5:n.1000C>A
NM_000203.4:c.972+28C>A	NP_000194.2:n.972+28C>A
NR_110313.1:n.1060+28C>A
XM_006713882.2:c.576+28C>A	XP_006713945.1:n.576+28C>A
XM_011513459.1:c.959C>A	XP_011511761.1:p.Pro320His
XM_011513460.1:c.831+28C>A	XP_011511762.1:n.831+28C>A
XM_011513461.1:c.765+28C>A	XP_011511763.1:n.765+28C>A
XM_011513462.1:c.684+28C>A	XP_011511764.1:n.684+28C>A
XM_011513463.1:c.684+28C>A	XP_011511765.1:n.684+28C>A
XR_924947.1:n.1041+28C>A
NM_000203.5:c.972+28C>A MANE Select	NP_000194.2:n.972+28C>A
NM_001363576.1:c.576+28C>A	NP_001350505.1:n.576+28C>A
XM_011513461.2:c.765+28C>A	XP_011511763.1:n.765+28C>A
XM_017008163.1:c.12+28C>A	XP_016863652.1:n.12+28C>A