Canonical Allele Identifier: CA91167206

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001506G>C , CM000666.2:g.1001506G>C	GRCh38
NC_000004.11:g.995294G>C , CM000666.1:g.995294G>C	GRCh37
NC_000004.10:g.985294G>C	NCBI36
NG_008103.1:g.19510G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.532G>C MANE Select	NP_000194.2:p.Glu178Gln
ENST00000514224.2:c.532G>C MANE Select	ENSP00000425081.2:p.Glu178Gln
NM_000203.4:c.532G>C	NP_000194.2:p.Glu178Gln
NM_001363576.1:c.136G>C	NP_001350505.1:p.Glu46Gln
NR_110313.1:n.620G>C
ENST00000247933.8:c.532G>C	ENSP00000247933.4:p.Glu178Gln
ENST00000247933.9:c.532G>C	ENSP00000247933.4:p.Glu178Gln
ENST00000502910.5:c.391G>C	ENSP00000422952.1:p.Glu131Gln
ENST00000504568.5:c.492G>C
ENST00000509948.5:c.325G>C	ENSP00000424227.1:p.Glu109Gln
ENST00000514192.5:c.349G>C	ENSP00000423685.1:p.Glu117Gln
ENST00000514224.1:c.136G>C	ENSP00000425081.1:p.Glu46Gln
ENST00000514698.5:n.432G>C
ENST00000652070.1:n.588G>C
XM_006713882.2:c.136G>C	XP_006713945.1:p.Glu46Gln
XM_011513459.1:c.391G>C	XP_011511761.1:p.Glu131Gln
XM_011513460.1:c.391G>C	XP_011511762.1:p.Glu131Gln
XM_011513461.1:c.325G>C	XP_011511763.1:p.Glu109Gln
XM_011513461.2:c.325G>C	XP_011511763.1:p.Glu109Gln
XM_011513462.1:c.244G>C	XP_011511764.1:p.Glu82Gln
XM_011513463.1:c.244G>C	XP_011511765.1:p.Glu82Gln
XM_017008163.1:c.-457G>C	XP_016863652.1:n.-457G>C
XR_924947.1:n.601G>C