Canonical Allele Identifier: CA1433071805

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003397T= , CM000666.2:g.1003397T=	GRCh38
NC_000004.11:g.997185T= , CM000666.1:g.997185T=	GRCh37
NC_000004.10:g.987185T=	NCBI36
NG_008103.1:g.21401T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1577T=	ENSP00000247933.4:p.Leu526=
ENST00000514224.2:c.1577T= MANE Select	ENSP00000425081.2:p.Leu526=
ENST00000652070.1:n.1633T=
ENST00000247933.8:c.1577T=	ENSP00000247933.4:p.Leu526=
ENST00000514224.1:c.1181T=	ENSP00000425081.1:p.Leu394=
ENST00000514698.5:n.1684T=
NM_000203.4:c.1577T=	NP_000194.2:p.Leu526=
NR_110313.1:n.1665T=
XM_006713882.2:c.1181T=	XP_006713945.1:p.Leu394=
XM_011513459.1:c.1643T=	XP_011511761.1:p.Leu548=
XM_011513460.1:c.1436T=	XP_011511762.1:p.Leu479=
XM_011513461.1:c.1370T=	XP_011511763.1:p.Leu457=
XM_011513462.1:c.1289T=	XP_011511764.1:p.Leu430=
XM_011513463.1:c.1289T=	XP_011511765.1:p.Leu430=
XR_924947.1:n.1833T=
NM_000203.5:c.1577T= MANE Select	NP_000194.2:p.Leu526=
NM_001363576.1:c.1181T=	NP_001350505.1:p.Leu394=
XM_011513461.2:c.1370T=	XP_011511763.1:p.Leu457=
XM_017008163.1:c.617T=	XP_016863652.1:p.Leu206=