Canonical Allele Identifier: CA1433071760

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003350G= , CM000666.2:g.1003350G=	GRCh38
NC_000004.11:g.997138G= , CM000666.1:g.997138G=	GRCh37
NC_000004.10:g.987138G=	NCBI36
NG_008103.1:g.21354G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1530G=	ENSP00000247933.4:p.Pro510=
ENST00000514224.2:c.1530G= MANE Select	ENSP00000425081.2:p.Pro510=
ENST00000652070.1:n.1586G=
ENST00000247933.8:c.1530G=	ENSP00000247933.4:p.Pro510=
ENST00000502829.1:n.519G=
ENST00000514224.1:c.1134G=	ENSP00000425081.1:p.Pro378=
ENST00000514698.5:n.1637G=
NM_000203.4:c.1530G=	NP_000194.2:p.Pro510=
NR_110313.1:n.1618G=
XM_006713882.2:c.1134G=	XP_006713945.1:p.Pro378=
XM_011513459.1:c.1596G=	XP_011511761.1:p.Pro532=
XM_011513460.1:c.1389G=	XP_011511762.1:p.Pro463=
XM_011513461.1:c.1323G=	XP_011511763.1:p.Pro441=
XM_011513462.1:c.1242G=	XP_011511764.1:p.Pro414=
XM_011513463.1:c.1242G=	XP_011511765.1:p.Pro414=
XR_924947.1:n.1786G=
NM_000203.5:c.1530G= MANE Select	NP_000194.2:p.Pro510=
NM_001363576.1:c.1134G=	NP_001350505.1:p.Pro378=
XM_011513461.2:c.1323G=	XP_011511763.1:p.Pro441=
XM_017008163.1:c.570G=	XP_016863652.1:p.Pro190=