Canonical Allele Identifier: CA355963302

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002383C>A , CM000666.2:g.1002383C>A	GRCh38
NC_000004.11:g.996171C>A , CM000666.1:g.996171C>A	GRCh37
NC_000004.10:g.986171C>A	NCBI36
NG_008103.1:g.20387C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1087C>A MANE Select	NP_000194.2:p.Arg363Ser
ENST00000514224.2:c.1087C>A MANE Select	ENSP00000425081.2:p.Arg363Ser
NM_000203.4:c.1087C>A	NP_000194.2:p.Arg363Ser
NM_001363576.1:c.691C>A	NP_001350505.1:p.Arg231Ser
NR_110313.1:n.1175C>A
ENST00000247933.8:c.1087C>A	ENSP00000247933.4:p.Arg363Ser
ENST00000247933.9:c.1087C>A	ENSP00000247933.4:p.Arg363Ser
ENST00000514224.1:c.691C>A	ENSP00000425081.1:p.Arg231Ser
ENST00000514698.5:n.1194C>A
ENST00000652070.1:n.1143C>A
XM_006713882.2:c.691C>A	XP_006713945.1:p.Arg231Ser
XM_011513459.1:c.1153C>A	XP_011511761.1:p.Arg385Ser
XM_011513460.1:c.946C>A	XP_011511762.1:p.Arg316Ser
XM_011513461.1:c.880C>A	XP_011511763.1:p.Arg294Ser
XM_011513461.2:c.880C>A	XP_011511763.1:p.Arg294Ser
XM_011513462.1:c.799C>A	XP_011511764.1:p.Arg267Ser
XM_011513463.1:c.799C>A	XP_011511765.1:p.Arg267Ser
XM_017008163.1:c.127C>A	XP_016863652.1:p.Arg43Ser
XR_924947.1:n.1156C>A