Canonical Allele Identifier: CA2739858956

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002212C>G , CM000666.2:g.1002212C>G	GRCh38
NC_000004.11:g.996000C>G , CM000666.1:g.996000C>G	GRCh37
NC_000004.10:g.986000C>G	NCBI36
NG_008103.1:g.20216C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.972+51C>G	ENSP00000247933.4:n.972+51C>G
ENST00000514224.2:c.972+51C>G MANE Select	ENSP00000425081.2:n.972+51C>G
ENST00000652070.1:n.1028+51C>G
ENST00000247933.8:c.972+51C>G	ENSP00000247933.4:n.972+51C>G
ENST00000514224.1:c.576+51C>G	ENSP00000425081.1:n.576+51C>G
ENST00000514698.5:n.1023C>G
NM_000203.4:c.972+51C>G	NP_000194.2:n.972+51C>G
NR_110313.1:n.1060+51C>G
XM_006713882.2:c.576+51C>G	XP_006713945.1:n.576+51C>G
XM_011513459.1:c.982C>G	XP_011511761.1:p.Arg328Gly
XM_011513460.1:c.831+51C>G	XP_011511762.1:n.831+51C>G
XM_011513461.1:c.765+51C>G	XP_011511763.1:n.765+51C>G
XM_011513462.1:c.684+51C>G	XP_011511764.1:n.684+51C>G
XM_011513463.1:c.684+51C>G	XP_011511765.1:n.684+51C>G
XR_924947.1:n.1041+51C>G
NM_000203.5:c.972+51C>G MANE Select	NP_000194.2:n.972+51C>G
NM_001363576.1:c.576+51C>G	NP_001350505.1:n.576+51C>G
XM_011513461.2:c.765+51C>G	XP_011511763.1:n.765+51C>G
XM_017008163.1:c.12+51C>G	XP_016863652.1:n.12+51C>G