Canonical Allele Identifier: CA355963595

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002767G>T , CM000666.2:g.1002767G>T	GRCh38
NC_000004.11:g.996555G>T , CM000666.1:g.996555G>T	GRCh37
NC_000004.10:g.986555G>T	NCBI36
NG_008103.1:g.20771G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1225G>T MANE Select	NP_000194.2:p.Gly409Trp
ENST00000514224.2:c.1225G>T MANE Select	ENSP00000425081.2:p.Gly409Trp
NM_000203.4:c.1225G>T	NP_000194.2:p.Gly409Trp
NM_001363576.1:c.829G>T	NP_001350505.1:p.Gly277Trp
NR_110313.1:n.1313G>T
ENST00000247933.8:c.1225G>T	ENSP00000247933.4:p.Gly409Trp
ENST00000247933.9:c.1225G>T	ENSP00000247933.4:p.Gly409Trp
ENST00000502829.1:n.27G>T
ENST00000514224.1:c.829G>T	ENSP00000425081.1:p.Gly277Trp
ENST00000514698.5:n.1332G>T
ENST00000652070.1:n.1281G>T
XM_006713882.2:c.829G>T	XP_006713945.1:p.Gly277Trp
XM_011513459.1:c.1291G>T	XP_011511761.1:p.Gly431Trp
XM_011513460.1:c.1084G>T	XP_011511762.1:p.Gly362Trp
XM_011513461.1:c.1018G>T	XP_011511763.1:p.Gly340Trp
XM_011513461.2:c.1018G>T	XP_011511763.1:p.Gly340Trp
XM_011513462.1:c.937G>T	XP_011511764.1:p.Gly313Trp
XM_011513463.1:c.937G>T	XP_011511765.1:p.Gly313Trp
XM_017008163.1:c.265G>T	XP_016863652.1:p.Gly89Trp
XR_924947.1:n.1294G>T