Canonical Allele Identifier: CA355964758

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003141-G-A
• MyVariant Identifiers: chr4:g.996929G>A (hg19) ; chr4:g.1003141G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003141G>A , CM000666.2:g.1003141G>A	GRCh38
NC_000004.11:g.996929G>A , CM000666.1:g.996929G>A	GRCh37
NC_000004.10:g.986929G>A	NCBI36
NG_008103.1:g.21145G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1508G>A	ENSP00000247933.4:p.Arg503His
ENST00000514224.2:c.1508G>A MANE Select	ENSP00000425081.2:p.Arg503His
ENST00000652070.1:n.1564G>A
ENST00000247933.8:c.1508G>A	ENSP00000247933.4:p.Arg503His
ENST00000502829.1:n.310G>A
ENST00000514224.1:c.1112G>A	ENSP00000425081.1:p.Arg371His
ENST00000514698.5:n.1615G>A
NM_000203.4:c.1508G>A	NP_000194.2:p.Arg503His
NR_110313.1:n.1596G>A
XM_006713882.2:c.1112G>A	XP_006713945.1:p.Arg371His
XM_011513459.1:c.1574G>A	XP_011511761.1:p.Arg525His
XM_011513460.1:c.1367G>A	XP_011511762.1:p.Arg456His
XM_011513461.1:c.1301G>A	XP_011511763.1:p.Arg434His
XM_011513462.1:c.1220G>A	XP_011511764.1:p.Arg407His
XM_011513463.1:c.1220G>A	XP_011511765.1:p.Arg407His
XR_924947.1:n.1577G>A
NM_000203.5:c.1508G>A MANE Select	NP_000194.2:p.Arg503His
NM_001363576.1:c.1112G>A	NP_001350505.1:p.Arg371His
XM_011513461.2:c.1301G>A	XP_011511763.1:p.Arg434His
XM_017008163.1:c.548G>A	XP_016863652.1:p.Arg183His