Canonical Allele Identifier: CA91169964

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002811C>A , CM000666.2:g.1002811C>A	GRCh38
NC_000004.11:g.996599C>A , CM000666.1:g.996599C>A	GRCh37
NC_000004.10:g.986599C>A	NCBI36
NG_008103.1:g.20815C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1269C>A MANE Select	NP_000194.2:p.Ser423Arg
ENST00000514224.2:c.1269C>A MANE Select	ENSP00000425081.2:p.Ser423Arg
NM_000203.4:c.1269C>A	NP_000194.2:p.Ser423Arg
NM_001363576.1:c.873C>A	NP_001350505.1:p.Ser291Arg
NR_110313.1:n.1357C>A
ENST00000247933.8:c.1269C>A	ENSP00000247933.4:p.Ser423Arg
ENST00000247933.9:c.1269C>A	ENSP00000247933.4:p.Ser423Arg
ENST00000502829.1:n.71C>A
ENST00000514224.1:c.873C>A	ENSP00000425081.1:p.Ser291Arg
ENST00000514698.5:n.1376C>A
ENST00000652070.1:n.1325C>A
XM_006713882.2:c.873C>A	XP_006713945.1:p.Ser291Arg
XM_011513459.1:c.1335C>A	XP_011511761.1:p.Ser445Arg
XM_011513460.1:c.1128C>A	XP_011511762.1:p.Ser376Arg
XM_011513461.1:c.1062C>A	XP_011511763.1:p.Ser354Arg
XM_011513461.2:c.1062C>A	XP_011511763.1:p.Ser354Arg
XM_011513462.1:c.981C>A	XP_011511764.1:p.Ser327Arg
XM_011513463.1:c.981C>A	XP_011511765.1:p.Ser327Arg
XM_017008163.1:c.309C>A	XP_016863652.1:p.Ser103Arg
XR_924947.1:n.1338C>A