Canonical Allele Identifier: CA1433069052

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002298G= , CM000666.2:g.1002298G=	GRCh38
NC_000004.11:g.996086G= , CM000666.1:g.996086G=	GRCh37
NC_000004.10:g.986086G=	NCBI36
NG_008103.1:g.20302G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1002G=	ENSP00000247933.4:p.Leu334=
ENST00000514224.2:c.1002G= MANE Select	ENSP00000425081.2:p.Leu334=
ENST00000652070.1:n.1058G=
ENST00000247933.8:c.1002G=	ENSP00000247933.4:p.Leu334=
ENST00000514224.1:c.606G=	ENSP00000425081.1:p.Leu202=
ENST00000514698.5:n.1109G=
NM_000203.4:c.1002G=	NP_000194.2:p.Leu334=
NR_110313.1:n.1090G=
XM_006713882.2:c.606G=	XP_006713945.1:p.Leu202=
XM_011513459.1:c.1068G=	XP_011511761.1:p.Leu356=
XM_011513460.1:c.861G=	XP_011511762.1:p.Leu287=
XM_011513461.1:c.795G=	XP_011511763.1:p.Leu265=
XM_011513462.1:c.714G=	XP_011511764.1:p.Leu238=
XM_011513463.1:c.714G=	XP_011511765.1:p.Leu238=
XR_924947.1:n.1071G=
NM_000203.5:c.1002G= MANE Select	NP_000194.2:p.Leu334=
NM_001363576.1:c.606G=	NP_001350505.1:p.Leu202=
XM_011513461.2:c.795G=	XP_011511763.1:p.Leu265=
XM_017008163.1:c.42G=	XP_016863652.1:p.Leu14=