Canonical Allele Identifier: CA355963129

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002337C>A , CM000666.2:g.1002337C>A	GRCh38
NC_000004.11:g.996125C>A , CM000666.1:g.996125C>A	GRCh37
NC_000004.10:g.986125C>A	NCBI36
NG_008103.1:g.20341C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1041C>A MANE Select	NP_000194.2:p.Ser347Arg
ENST00000514224.2:c.1041C>A MANE Select	ENSP00000425081.2:p.Ser347Arg
NM_000203.4:c.1041C>A	NP_000194.2:p.Ser347Arg
NM_001363576.1:c.645C>A	NP_001350505.1:p.Ser215Arg
NR_110313.1:n.1129C>A
ENST00000247933.8:c.1041C>A	ENSP00000247933.4:p.Ser347Arg
ENST00000247933.9:c.1041C>A	ENSP00000247933.4:p.Ser347Arg
ENST00000514224.1:c.645C>A	ENSP00000425081.1:p.Ser215Arg
ENST00000514698.5:n.1148C>A
ENST00000652070.1:n.1097C>A
XM_006713882.2:c.645C>A	XP_006713945.1:p.Ser215Arg
XM_011513459.1:c.1107C>A	XP_011511761.1:p.Ser369Arg
XM_011513460.1:c.900C>A	XP_011511762.1:p.Ser300Arg
XM_011513461.1:c.834C>A	XP_011511763.1:p.Ser278Arg
XM_011513461.2:c.834C>A	XP_011511763.1:p.Ser278Arg
XM_011513462.1:c.753C>A	XP_011511764.1:p.Ser251Arg
XM_011513463.1:c.753C>A	XP_011511765.1:p.Ser251Arg
XM_017008163.1:c.81C>A	XP_016863652.1:p.Ser27Arg
XR_924947.1:n.1110C>A