Canonical Allele Identifier: CA355962527

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002092C>A , CM000666.2:g.1002092C>A	GRCh38
NC_000004.11:g.995880C>A , CM000666.1:g.995880C>A	GRCh37
NC_000004.10:g.985880C>A	NCBI36
NG_008103.1:g.20096C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.903C>A MANE Select	NP_000194.2:p.Asp301Glu
ENST00000514224.2:c.903C>A MANE Select	ENSP00000425081.2:p.Asp301Glu
NM_000203.4:c.903C>A	NP_000194.2:p.Asp301Glu
NM_001363576.1:c.507C>A	NP_001350505.1:p.Asp169Glu
NR_110313.1:n.991C>A
ENST00000247933.8:c.903C>A	ENSP00000247933.4:p.Asp301Glu
ENST00000247933.9:c.903C>A	ENSP00000247933.4:p.Asp301Glu
ENST00000514224.1:c.507C>A	ENSP00000425081.1:p.Asp169Glu
ENST00000514698.5:n.903C>A
ENST00000652070.1:n.959C>A
XM_006713882.2:c.507C>A	XP_006713945.1:p.Asp169Glu
XM_011513459.1:c.862C>A	XP_011511761.1:p.Pro288Thr
XM_011513460.1:c.762C>A	XP_011511762.1:p.Asp254Glu
XM_011513461.1:c.696C>A	XP_011511763.1:p.Asp232Glu
XM_011513461.2:c.696C>A	XP_011511763.1:p.Asp232Glu
XM_011513462.1:c.615C>A	XP_011511764.1:p.Asp205Glu
XM_011513463.1:c.615C>A	XP_011511765.1:p.Asp205Glu
XM_017008163.1:c.-58C>A	XP_016863652.1:n.-58C>A
XR_924947.1:n.972C>A