Canonical Allele Identifier: CA438057630

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002754-A-G
• MyVariant Identifiers: chr4:g.996542A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002754A>G , CM000666.2:g.1002754A>G	GRCh38
NC_000004.11:g.996542A>G , CM000666.1:g.996542A>G	GRCh37
NC_000004.10:g.986542A>G	NCBI36
NG_008103.1:g.20758A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1212A>G	ENSP00000247933.4:p.Glu404=
ENST00000514224.2:c.1212A>G MANE Select	ENSP00000425081.2:p.Glu404=
ENST00000652070.1:n.1268A>G
ENST00000247933.8:c.1212A>G	ENSP00000247933.4:p.Glu404=
ENST00000502829.1:n.14A>G
ENST00000514224.1:c.816A>G	ENSP00000425081.1:p.Glu272=
ENST00000514698.5:n.1319A>G
NM_000203.4:c.1212A>G	NP_000194.2:p.Glu404=
NR_110313.1:n.1300A>G
XM_006713882.2:c.816A>G	XP_006713945.1:p.Glu272=
XM_011513459.1:c.1278A>G	XP_011511761.1:p.Glu426=
XM_011513460.1:c.1071A>G	XP_011511762.1:p.Glu357=
XM_011513461.1:c.1005A>G	XP_011511763.1:p.Glu335=
XM_011513462.1:c.924A>G	XP_011511764.1:p.Glu308=
XM_011513463.1:c.924A>G	XP_011511765.1:p.Glu308=
XR_924947.1:n.1281A>G
NM_000203.5:c.1212A>G MANE Select	NP_000194.2:p.Glu404=
NM_001363576.1:c.816A>G	NP_001350505.1:p.Glu272=
XM_011513461.2:c.1005A>G	XP_011511763.1:p.Glu335=
XM_017008163.1:c.252A>G	XP_016863652.1:p.Glu84=