Canonical Allele Identifier: CA2801872

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1000628G>C , CM000666.2:g.1000628G>C	GRCh38
NC_000004.11:g.994416G>C , CM000666.1:g.994416G>C	GRCh37
NC_000004.10:g.984416G>C	NCBI36
NG_008103.1:g.18632G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.316G>C MANE Select	NP_000194.2:p.Gly106Arg
ENST00000514224.2:c.316G>C MANE Select	ENSP00000425081.2:p.Gly106Arg
NM_000203.4:c.316G>C	NP_000194.2:p.Gly106Arg
NM_001363576.1:c.-81G>C	NP_001350505.1:n.-81G>C
NR_110313.1:n.404G>C
ENST00000247933.8:c.316G>C	ENSP00000247933.4:p.Gly106Arg
ENST00000247933.9:c.316G>C	ENSP00000247933.4:p.Gly106Arg
ENST00000502910.5:c.175G>C	ENSP00000422952.1:p.Gly59Arg
ENST00000504568.5:c.276G>C
ENST00000506561.5:n.325G>C
ENST00000508168.5:n.194G>C
ENST00000509948.5:c.109G>C	ENSP00000424227.1:p.Gly37Arg
ENST00000514192.5:c.133G>C	ENSP00000423685.1:p.Gly45Arg
ENST00000514224.1:c.-81G>C	ENSP00000425081.1:n.-81G>C
ENST00000514698.5:n.216G>C
ENST00000652070.1:n.372G>C
XM_006713882.2:c.-81G>C	XP_006713945.1:n.-81G>C
XM_011513459.1:c.175G>C	XP_011511761.1:p.Gly59Arg
XM_011513460.1:c.175G>C	XP_011511762.1:p.Gly59Arg
XM_011513461.1:c.109G>C	XP_011511763.1:p.Gly37Arg
XM_011513461.2:c.109G>C	XP_011511763.1:p.Gly37Arg
XM_011513462.1:c.-157G>C	XP_011511764.1:n.-157G>C
XM_011513463.1:c.-157G>C	XP_011511765.1:n.-157G>C
XM_017008163.1:c.-1151G>C	XP_016863652.1:n.-1151G>C
XR_924947.1:n.385G>C