Canonical Allele Identifier: CA1433070107

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002744T= , CM000666.2:g.1002744T=	GRCh38
NC_000004.11:g.996532T= , CM000666.1:g.996532T=	GRCh37
NC_000004.10:g.986532T=	NCBI36
NG_008103.1:g.20748T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1202T=	ENSP00000247933.4:p.Leu401=
ENST00000514224.2:c.1202T= MANE Select	ENSP00000425081.2:p.Leu401=
ENST00000652070.1:n.1258T=
ENST00000247933.8:c.1202T=	ENSP00000247933.4:p.Leu401=
ENST00000502829.1:n.4T=
ENST00000514224.1:c.806T=	ENSP00000425081.1:p.Leu269=
ENST00000514698.5:n.1309T=
NM_000203.4:c.1202T=	NP_000194.2:p.Leu401=
NR_110313.1:n.1290T=
XM_006713882.2:c.806T=	XP_006713945.1:p.Leu269=
XM_011513459.1:c.1268T=	XP_011511761.1:p.Leu423=
XM_011513460.1:c.1061T=	XP_011511762.1:p.Leu354=
XM_011513461.1:c.995T=	XP_011511763.1:p.Leu332=
XM_011513462.1:c.914T=	XP_011511764.1:p.Leu305=
XM_011513463.1:c.914T=	XP_011511765.1:p.Leu305=
XR_924947.1:n.1271T=
NM_000203.5:c.1202T= MANE Select	NP_000194.2:p.Leu401=
NM_001363576.1:c.806T=	NP_001350505.1:p.Leu269=
XM_011513461.2:c.995T=	XP_011511763.1:p.Leu332=
XM_017008163.1:c.242T=	XP_016863652.1:p.Leu81=