Canonical Allele Identifier: CA1433072216

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003603T= , CM000666.2:g.1003603T=	GRCh38
NC_000004.11:g.997391T= , CM000666.1:g.997391T=	GRCh37
NC_000004.10:g.987391T=	NCBI36
NG_008103.1:g.21607T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1705T=	ENSP00000247933.4:p.Ser569=
ENST00000514224.2:c.1705T= MANE Select	ENSP00000425081.2:p.Ser569=
ENST00000652070.1:n.1761T=
ENST00000247933.8:c.1705T=	ENSP00000247933.4:p.Ser569=
ENST00000514224.1:c.1309T=	ENSP00000425081.1:p.Ser437=
ENST00000514417.1:n.97T=
ENST00000514698.5:n.1812T=
NM_000203.4:c.1705T=	NP_000194.2:p.Ser569=
NR_110313.1:n.1793T=
XM_006713882.2:c.1309T=	XP_006713945.1:p.Ser437=
XM_011513459.1:c.1771T=	XP_011511761.1:p.Ser591=
XM_011513460.1:c.1564T=	XP_011511762.1:p.Ser522=
XM_011513461.1:c.1498T=	XP_011511763.1:p.Ser500=
XM_011513462.1:c.1417T=	XP_011511764.1:p.Ser473=
XM_011513463.1:c.1417T=	XP_011511765.1:p.Ser473=
XR_924947.1:n.1961T=
NM_000203.5:c.1705T= MANE Select	NP_000194.2:p.Ser569=
NM_001363576.1:c.1309T=	NP_001350505.1:p.Ser437=
XM_011513461.2:c.1498T=	XP_011511763.1:p.Ser500=
XM_017008163.1:c.745T=	XP_016863652.1:p.Ser249=