Canonical Allele Identifier: CA2802173

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002342A>G , CM000666.2:g.1002342A>G	GRCh38
NC_000004.11:g.996130A>G , CM000666.1:g.996130A>G	GRCh37
NC_000004.10:g.986130A>G	NCBI36
NG_008103.1:g.20346A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1046A>G MANE Select	NP_000194.2:p.Asp349Gly
ENST00000514224.2:c.1046A>G MANE Select	ENSP00000425081.2:p.Asp349Gly
NM_000203.4:c.1046A>G	NP_000194.2:p.Asp349Gly
NM_001363576.1:c.650A>G	NP_001350505.1:p.Asp217Gly
NR_110313.1:n.1134A>G
ENST00000247933.8:c.1046A>G	ENSP00000247933.4:p.Asp349Gly
ENST00000247933.9:c.1046A>G	ENSP00000247933.4:p.Asp349Gly
ENST00000514224.1:c.650A>G	ENSP00000425081.1:p.Asp217Gly
ENST00000514698.5:n.1153A>G
ENST00000652070.1:n.1102A>G
XM_006713882.2:c.650A>G	XP_006713945.1:p.Asp217Gly
XM_011513459.1:c.1112A>G	XP_011511761.1:p.Asp371Gly
XM_011513460.1:c.905A>G	XP_011511762.1:p.Asp302Gly
XM_011513461.1:c.839A>G	XP_011511763.1:p.Asp280Gly
XM_011513461.2:c.839A>G	XP_011511763.1:p.Asp280Gly
XM_011513462.1:c.758A>G	XP_011511764.1:p.Asp253Gly
XM_011513463.1:c.758A>G	XP_011511765.1:p.Asp253Gly
XM_017008163.1:c.86A>G	XP_016863652.1:p.Asp29Gly
XR_924947.1:n.1115A>G