Canonical Allele Identifier: CA355964628

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003089G>T , CM000666.2:g.1003089G>T	GRCh38
NC_000004.11:g.996877G>T , CM000666.1:g.996877G>T	GRCh37
NC_000004.10:g.986877G>T	NCBI36
NG_008103.1:g.21093G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1456G>T MANE Select	NP_000194.2:p.Glu486Ter
ENST00000514224.2:c.1456G>T MANE Select	ENSP00000425081.2:p.Glu486Ter
NM_000203.4:c.1456G>T	NP_000194.2:p.Glu486Ter
NM_001363576.1:c.1060G>T	NP_001350505.1:p.Glu354Ter
NR_110313.1:n.1544G>T
ENST00000247933.8:c.1456G>T	ENSP00000247933.4:p.Glu486Ter
ENST00000247933.9:c.1456G>T	ENSP00000247933.4:p.Glu486Ter
ENST00000502829.1:n.258G>T
ENST00000514224.1:c.1060G>T	ENSP00000425081.1:p.Glu354Ter
ENST00000514698.5:n.1563G>T
ENST00000652070.1:n.1512G>T
XM_006713882.2:c.1060G>T	XP_006713945.1:p.Glu354Ter
XM_011513459.1:c.1522G>T	XP_011511761.1:p.Glu508Ter
XM_011513460.1:c.1315G>T	XP_011511762.1:p.Glu439Ter
XM_011513461.1:c.1249G>T	XP_011511763.1:p.Glu417Ter
XM_011513461.2:c.1249G>T	XP_011511763.1:p.Glu417Ter
XM_011513462.1:c.1168G>T	XP_011511764.1:p.Glu390Ter
XM_011513463.1:c.1168G>T	XP_011511765.1:p.Glu390Ter
XM_017008163.1:c.496G>T	XP_016863652.1:p.Glu166Ter
XR_924947.1:n.1525G>T