Canonical Allele Identifier: CA355962707

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002125G>A , CM000666.2:g.1002125G>A	GRCh38
NC_000004.11:g.995913G>A , CM000666.1:g.995913G>A	GRCh37
NC_000004.10:g.985913G>A	NCBI36
NG_008103.1:g.20129G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.936G>A MANE Select	NP_000194.2:p.Trp312Ter
ENST00000514224.2:c.936G>A MANE Select	ENSP00000425081.2:p.Trp312Ter
NM_000203.4:c.936G>A	NP_000194.2:p.Trp312Ter
NM_001363576.1:c.540G>A	NP_001350505.1:p.Trp180Ter
NR_110313.1:n.1024G>A
ENST00000247933.8:c.936G>A	ENSP00000247933.4:p.Trp312Ter
ENST00000247933.9:c.936G>A	ENSP00000247933.4:p.Trp312Ter
ENST00000514224.1:c.540G>A	ENSP00000425081.1:p.Trp180Ter
ENST00000514698.5:n.936G>A
ENST00000652070.1:n.992G>A
XM_006713882.2:c.540G>A	XP_006713945.1:p.Trp180Ter
XM_011513459.1:c.895G>A	XP_011511761.1:p.Glu299Lys
XM_011513460.1:c.795G>A	XP_011511762.1:p.Trp265Ter
XM_011513461.1:c.729G>A	XP_011511763.1:p.Trp243Ter
XM_011513461.2:c.729G>A	XP_011511763.1:p.Trp243Ter
XM_011513462.1:c.648G>A	XP_011511764.1:p.Trp216Ter
XM_011513463.1:c.648G>A	XP_011511765.1:p.Trp216Ter
XM_017008163.1:c.-25G>A	XP_016863652.1:n.-25G>A
XR_924947.1:n.1005G>A