Canonical Allele Identifier: CA2802118

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002094C>G , CM000666.2:g.1002094C>G	GRCh38
NC_000004.11:g.995882C>G , CM000666.1:g.995882C>G	GRCh37
NC_000004.10:g.985882C>G	NCBI36
NG_008103.1:g.20098C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.905C>G MANE Select	NP_000194.2:p.Pro302Arg
ENST00000514224.2:c.905C>G MANE Select	ENSP00000425081.2:p.Pro302Arg
NM_000203.4:c.905C>G	NP_000194.2:p.Pro302Arg
NM_001363576.1:c.509C>G	NP_001350505.1:p.Pro170Arg
NR_110313.1:n.993C>G
ENST00000247933.8:c.905C>G	ENSP00000247933.4:p.Pro302Arg
ENST00000247933.9:c.905C>G	ENSP00000247933.4:p.Pro302Arg
ENST00000514224.1:c.509C>G	ENSP00000425081.1:p.Pro170Arg
ENST00000514698.5:n.905C>G
ENST00000652070.1:n.961C>G
XM_006713882.2:c.509C>G	XP_006713945.1:p.Pro170Arg
XM_011513459.1:c.864C>G	XP_011511761.1:p.Pro288=
XM_011513460.1:c.764C>G	XP_011511762.1:p.Pro255Arg
XM_011513461.1:c.698C>G	XP_011511763.1:p.Pro233Arg
XM_011513461.2:c.698C>G	XP_011511763.1:p.Pro233Arg
XM_011513462.1:c.617C>G	XP_011511764.1:p.Pro206Arg
XM_011513463.1:c.617C>G	XP_011511765.1:p.Pro206Arg
XM_017008163.1:c.-56C>G	XP_016863652.1:n.-56C>G
XR_924947.1:n.974C>G