Canonical Allele Identifier: CA438057585

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002736-G-A
• MyVariant Identifiers: chr4:g.996524G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002736G>A , CM000666.2:g.1002736G>A	GRCh38
NC_000004.11:g.996524G>A , CM000666.1:g.996524G>A	GRCh37
NC_000004.10:g.986524G>A	NCBI36
NG_008103.1:g.20740G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1194G>A	ENSP00000247933.4:p.Glu398=
ENST00000514224.2:c.1194G>A MANE Select	ENSP00000425081.2:p.Glu398=
ENST00000652070.1:n.1250G>A
ENST00000247933.8:c.1194G>A	ENSP00000247933.4:p.Glu398=
ENST00000514224.1:c.798G>A	ENSP00000425081.1:p.Glu266=
ENST00000514698.5:n.1301G>A
NM_000203.4:c.1194G>A	NP_000194.2:p.Glu398=
NR_110313.1:n.1282G>A
XM_006713882.2:c.798G>A	XP_006713945.1:p.Glu266=
XM_011513459.1:c.1260G>A	XP_011511761.1:p.Glu420=
XM_011513460.1:c.1053G>A	XP_011511762.1:p.Glu351=
XM_011513461.1:c.987G>A	XP_011511763.1:p.Glu329=
XM_011513462.1:c.906G>A	XP_011511764.1:p.Glu302=
XM_011513463.1:c.906G>A	XP_011511765.1:p.Glu302=
XR_924947.1:n.1263G>A
NM_000203.5:c.1194G>A MANE Select	NP_000194.2:p.Glu398=
NM_001363576.1:c.798G>A	NP_001350505.1:p.Glu266=
XM_011513461.2:c.987G>A	XP_011511763.1:p.Glu329=
XM_017008163.1:c.234G>A	XP_016863652.1:p.Glu78=