Canonical Allele Identifier: CA1433073274

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1004391T= , CM000666.2:g.1004391T=	GRCh38
NC_000004.11:g.998179T= , CM000666.1:g.998179T=	GRCh37
NC_000004.10:g.988179T=	NCBI36
NG_008103.1:g.22395T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1960T= MANE Select	NP_000194.2:p.Ter654=
ENST00000514224.2:c.1960T= MANE Select	ENSP00000425081.2:p.Ter654=
NM_000203.4:c.1960T=	NP_000194.2:p.Ter654=
NM_001363576.1:c.1564T=	NP_001350505.1:p.Ter522=
NR_110313.1:n.2052T=
ENST00000247933.8:c.1960T=	ENSP00000247933.4:p.Ter654=
ENST00000247933.9:c.1960T=	ENSP00000247933.4:p.Ter654=
ENST00000514224.1:c.1564T=	ENSP00000425081.1:p.Ter522=
ENST00000514698.5:n.2071T=
ENST00000652070.1:n.2016T=
XM_006713882.2:c.1564T=	XP_006713945.1:p.Ter522=
XM_011513459.1:c.2026T=	XP_011511761.1:p.Ter676=
XM_011513460.1:c.1819T=	XP_011511762.1:p.Ter607=
XM_011513461.1:c.1753T=	XP_011511763.1:p.Ter585=
XM_011513461.2:c.1753T=	XP_011511763.1:p.Ter585=
XM_011513462.1:c.1672T=	XP_011511764.1:p.Ter558=
XM_011513463.1:c.1672T=	XP_011511765.1:p.Ter558=
XM_017008163.1:c.1000T=	XP_016863652.1:p.Ter334=
XR_924947.1:n.2220T=