Canonical Allele Identifier: CA1433069041

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002292G= , CM000666.2:g.1002292G=	GRCh38
NC_000004.11:g.996080G= , CM000666.1:g.996080G=	GRCh37
NC_000004.10:g.986080G=	NCBI36
NG_008103.1:g.20296G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.996G=	ENSP00000247933.4:p.Leu332=
ENST00000514224.2:c.996G= MANE Select	ENSP00000425081.2:p.Leu332=
ENST00000652070.1:n.1052G=
ENST00000247933.8:c.996G=	ENSP00000247933.4:p.Leu332=
ENST00000514224.1:c.600G=	ENSP00000425081.1:p.Leu200=
ENST00000514698.5:n.1103G=
NM_000203.4:c.996G=	NP_000194.2:p.Leu332=
NR_110313.1:n.1084G=
XM_006713882.2:c.600G=	XP_006713945.1:p.Leu200=
XM_011513459.1:c.1062G=	XP_011511761.1:p.Leu354=
XM_011513460.1:c.855G=	XP_011511762.1:p.Leu285=
XM_011513461.1:c.789G=	XP_011511763.1:p.Leu263=
XM_011513462.1:c.708G=	XP_011511764.1:p.Leu236=
XM_011513463.1:c.708G=	XP_011511765.1:p.Leu236=
XR_924947.1:n.1065G=
NM_000203.5:c.996G= MANE Select	NP_000194.2:p.Leu332=
NM_001363576.1:c.600G=	NP_001350505.1:p.Leu200=
XM_011513461.2:c.789G=	XP_011511763.1:p.Leu263=
XM_017008163.1:c.36G=	XP_016863652.1:p.Leu12=