Canonical Allele Identifier: CA1433071827

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003421C= , CM000666.2:g.1003421C=	GRCh38
NC_000004.11:g.997209C= , CM000666.1:g.997209C=	GRCh37
NC_000004.10:g.987209C=	NCBI36
NG_008103.1:g.21425C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1601C=	ENSP00000247933.4:p.Ser534=
ENST00000514224.2:c.1601C= MANE Select	ENSP00000425081.2:p.Ser534=
ENST00000652070.1:n.1657C=
ENST00000247933.8:c.1601C=	ENSP00000247933.4:p.Ser534=
ENST00000514224.1:c.1205C=	ENSP00000425081.1:p.Ser402=
ENST00000514698.5:n.1708C=
NM_000203.4:c.1601C=	NP_000194.2:p.Ser534=
NR_110313.1:n.1689C=
XM_006713882.2:c.1205C=	XP_006713945.1:p.Ser402=
XM_011513459.1:c.1667C=	XP_011511761.1:p.Ser556=
XM_011513460.1:c.1460C=	XP_011511762.1:p.Ser487=
XM_011513461.1:c.1394C=	XP_011511763.1:p.Ser465=
XM_011513462.1:c.1313C=	XP_011511764.1:p.Ser438=
XM_011513463.1:c.1313C=	XP_011511765.1:p.Ser438=
XR_924947.1:n.1857C=
NM_000203.5:c.1601C= MANE Select	NP_000194.2:p.Ser534=
NM_001363576.1:c.1205C=	NP_001350505.1:p.Ser402=
XM_011513461.2:c.1394C=	XP_011511763.1:p.Ser465=
XM_017008163.1:c.641C=	XP_016863652.1:p.Ser214=