Canonical Allele Identifier: CA355965197

Gene: IDUA

Linked Data

• dbSNP Id: rs1221953069
• gnomAD v3: 4-1003580-A-G
• gnomAD v4: 4-1003580-A-G
• MyVariant Identifiers: chr4:g.997368A>G (hg19) ; chr4:g.1003580A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003580A>G , CM000666.2:g.1003580A>G	GRCh38
NC_000004.11:g.997368A>G , CM000666.1:g.997368A>G	GRCh37
NC_000004.10:g.987368A>G	NCBI36
NG_008103.1:g.21584A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1682A>G	ENSP00000247933.4:p.Gln561Arg
ENST00000514224.2:c.1682A>G MANE Select	ENSP00000425081.2:p.Gln561Arg
ENST00000652070.1:n.1738A>G
ENST00000247933.8:c.1682A>G	ENSP00000247933.4:p.Gln561Arg
ENST00000514224.1:c.1286A>G	ENSP00000425081.1:p.Gln429Arg
ENST00000514417.1:n.74A>G
ENST00000514698.5:n.1789A>G
NM_000203.4:c.1682A>G	NP_000194.2:p.Gln561Arg
NR_110313.1:n.1770A>G
XM_006713882.2:c.1286A>G	XP_006713945.1:p.Gln429Arg
XM_011513459.1:c.1748A>G	XP_011511761.1:p.Gln583Arg
XM_011513460.1:c.1541A>G	XP_011511762.1:p.Gln514Arg
XM_011513461.1:c.1475A>G	XP_011511763.1:p.Gln492Arg
XM_011513462.1:c.1394A>G	XP_011511764.1:p.Gln465Arg
XM_011513463.1:c.1394A>G	XP_011511765.1:p.Gln465Arg
XR_924947.1:n.1938A>G
NM_000203.5:c.1682A>G MANE Select	NP_000194.2:p.Gln561Arg
NM_001363576.1:c.1286A>G	NP_001350505.1:p.Gln429Arg
XM_011513461.2:c.1475A>G	XP_011511763.1:p.Gln492Arg
XM_017008163.1:c.722A>G	XP_016863652.1:p.Gln241Arg