Canonical Allele Identifier: CA1433068151

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001867T= , CM000666.2:g.1001867T=	GRCh38
NC_000004.11:g.995655T= , CM000666.1:g.995655T=	GRCh37
NC_000004.10:g.985655T=	NCBI36
NG_008103.1:g.19871T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.778T=	ENSP00000247933.4:p.Ser260=
ENST00000514224.2:c.778T= MANE Select	ENSP00000425081.2:p.Ser260=
ENST00000652070.1:n.834T=
ENST00000247933.8:c.778T=	ENSP00000247933.4:p.Ser260=
ENST00000502910.5:c.637T=	ENSP00000422952.1:p.Ser213=
ENST00000514192.5:c.595T=	ENSP00000423685.1:p.Ser199=
ENST00000514224.1:c.382T=	ENSP00000425081.1:p.Ser128=
ENST00000514698.5:n.678T=
NM_000203.4:c.778T=	NP_000194.2:p.Ser260=
NR_110313.1:n.866T=
XM_006713882.2:c.382T=	XP_006713945.1:p.Ser128=
XM_011513459.1:c.637T=	XP_011511761.1:p.Ser213=
XM_011513460.1:c.637T=	XP_011511762.1:p.Ser213=
XM_011513461.1:c.571T=	XP_011511763.1:p.Ser191=
XM_011513462.1:c.490T=	XP_011511764.1:p.Ser164=
XM_011513463.1:c.490T=	XP_011511765.1:p.Ser164=
XR_924947.1:n.847T=
NM_000203.5:c.778T= MANE Select	NP_000194.2:p.Ser260=
NM_001363576.1:c.382T=	NP_001350505.1:p.Ser128=
XM_011513461.2:c.571T=	XP_011511763.1:p.Ser191=
XM_017008163.1:c.-183T=	XP_016863652.1:n.-183T=