Canonical Allele Identifier: CA355962359

Gene: IDUA

Linked Data

• dbSNP Id: rs1323924285
• gnomAD v2: 4-995804-A-G
• gnomAD v4: 4-1002016-A-G
• MyVariant Identifiers: chr4:g.995804A>G (hg19) ; chr4:g.1002016A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002016A>G , CM000666.2:g.1002016A>G	GRCh38
NC_000004.11:g.995804A>G , CM000666.1:g.995804A>G	GRCh37
NC_000004.10:g.985804A>G	NCBI36
NG_008103.1:g.20020A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.827A>G	ENSP00000247933.4:p.Glu276Gly
ENST00000514224.2:c.827A>G MANE Select	ENSP00000425081.2:p.Glu276Gly
ENST00000652070.1:n.883A>G
ENST00000247933.8:c.827A>G	ENSP00000247933.4:p.Glu276Gly
ENST00000514192.5:c.644A>G	ENSP00000423685.1:p.Glu215Gly
ENST00000514224.1:c.431A>G	ENSP00000425081.1:p.Glu144Gly
ENST00000514698.5:n.827A>G
NM_000203.4:c.827A>G	NP_000194.2:p.Glu276Gly
NR_110313.1:n.915A>G
XM_006713882.2:c.431A>G	XP_006713945.1:p.Glu144Gly
XM_011513459.1:c.786A>G	XP_011511761.1:p.Gly262=
XM_011513460.1:c.686A>G	XP_011511762.1:p.Glu229Gly
XM_011513461.1:c.620A>G	XP_011511763.1:p.Glu207Gly
XM_011513462.1:c.539A>G	XP_011511764.1:p.Glu180Gly
XM_011513463.1:c.539A>G	XP_011511765.1:p.Glu180Gly
XR_924947.1:n.896A>G
NM_000203.5:c.827A>G MANE Select	NP_000194.2:p.Glu276Gly
NM_001363576.1:c.431A>G	NP_001350505.1:p.Glu144Gly
XM_011513461.2:c.620A>G	XP_011511763.1:p.Glu207Gly
XM_017008163.1:c.-134A>G	XP_016863652.1:n.-134A>G