Canonical Allele Identifier: CA355964966

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003381G>A , CM000666.2:g.1003381G>A	GRCh38
NC_000004.11:g.997169G>A , CM000666.1:g.997169G>A	GRCh37
NC_000004.10:g.987169G>A	NCBI36
NG_008103.1:g.21385G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1561G>A MANE Select	NP_000194.2:p.Gly521Ser
ENST00000514224.2:c.1561G>A MANE Select	ENSP00000425081.2:p.Gly521Ser
NM_000203.4:c.1561G>A	NP_000194.2:p.Gly521Ser
NM_001363576.1:c.1165G>A	NP_001350505.1:p.Gly389Ser
NR_110313.1:n.1649G>A
ENST00000247933.8:c.1561G>A	ENSP00000247933.4:p.Gly521Ser
ENST00000247933.9:c.1561G>A	ENSP00000247933.4:p.Gly521Ser
ENST00000502829.1:n.550G>A
ENST00000514224.1:c.1165G>A	ENSP00000425081.1:p.Gly389Ser
ENST00000514698.5:n.1668G>A
ENST00000652070.1:n.1617G>A
XM_006713882.2:c.1165G>A	XP_006713945.1:p.Gly389Ser
XM_011513459.1:c.1627G>A	XP_011511761.1:p.Gly543Ser
XM_011513460.1:c.1420G>A	XP_011511762.1:p.Gly474Ser
XM_011513461.1:c.1354G>A	XP_011511763.1:p.Gly452Ser
XM_011513461.2:c.1354G>A	XP_011511763.1:p.Gly452Ser
XM_011513462.1:c.1273G>A	XP_011511764.1:p.Gly425Ser
XM_011513463.1:c.1273G>A	XP_011511765.1:p.Gly425Ser
XM_017008163.1:c.601G>A	XP_016863652.1:p.Gly201Ser
XR_924947.1:n.1817G>A