Canonical Allele Identifier: CA438058053

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997387C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003599C>A , CM000666.2:g.1003599C>A	GRCh38
NC_000004.11:g.997387C>A , CM000666.1:g.997387C>A	GRCh37
NC_000004.10:g.987387C>A	NCBI36
NG_008103.1:g.21603C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1701C>A	ENSP00000247933.4:p.Val567=
ENST00000514224.2:c.1701C>A MANE Select	ENSP00000425081.2:p.Val567=
ENST00000652070.1:n.1757C>A
ENST00000247933.8:c.1701C>A	ENSP00000247933.4:p.Val567=
ENST00000514224.1:c.1305C>A	ENSP00000425081.1:p.Val435=
ENST00000514417.1:n.93C>A
ENST00000514698.5:n.1808C>A
NM_000203.4:c.1701C>A	NP_000194.2:p.Val567=
NR_110313.1:n.1789C>A
XM_006713882.2:c.1305C>A	XP_006713945.1:p.Val435=
XM_011513459.1:c.1767C>A	XP_011511761.1:p.Val589=
XM_011513460.1:c.1560C>A	XP_011511762.1:p.Val520=
XM_011513461.1:c.1494C>A	XP_011511763.1:p.Val498=
XM_011513462.1:c.1413C>A	XP_011511764.1:p.Val471=
XM_011513463.1:c.1413C>A	XP_011511765.1:p.Val471=
XR_924947.1:n.1957C>A
NM_000203.5:c.1701C>A MANE Select	NP_000194.2:p.Val567=
NM_001363576.1:c.1305C>A	NP_001350505.1:p.Val435=
XM_011513461.2:c.1494C>A	XP_011511763.1:p.Val498=
XM_017008163.1:c.741C>A	XP_016863652.1:p.Val247=