Canonical Allele Identifier: CA355965195

Gene: IDUA

Linked Data

• dbSNP Id: rs752800292
• gnomAD v3: 4-1003579-C-G
• gnomAD v4: 4-1003579-C-G
• MyVariant Identifiers: chr4:g.997367C>G (hg19) ; chr4:g.1003579C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003579C>G , CM000666.2:g.1003579C>G	GRCh38
NC_000004.11:g.997367C>G , CM000666.1:g.997367C>G	GRCh37
NC_000004.10:g.987367C>G	NCBI36
NG_008103.1:g.21583C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1681C>G	ENSP00000247933.4:p.Gln561Glu
ENST00000514224.2:c.1681C>G MANE Select	ENSP00000425081.2:p.Gln561Glu
ENST00000652070.1:n.1737C>G
ENST00000247933.8:c.1681C>G	ENSP00000247933.4:p.Gln561Glu
ENST00000514224.1:c.1285C>G	ENSP00000425081.1:p.Gln429Glu
ENST00000514417.1:n.73C>G
ENST00000514698.5:n.1788C>G
NM_000203.4:c.1681C>G	NP_000194.2:p.Gln561Glu
NR_110313.1:n.1769C>G
XM_006713882.2:c.1285C>G	XP_006713945.1:p.Gln429Glu
XM_011513459.1:c.1747C>G	XP_011511761.1:p.Gln583Glu
XM_011513460.1:c.1540C>G	XP_011511762.1:p.Gln514Glu
XM_011513461.1:c.1474C>G	XP_011511763.1:p.Gln492Glu
XM_011513462.1:c.1393C>G	XP_011511764.1:p.Gln465Glu
XM_011513463.1:c.1393C>G	XP_011511765.1:p.Gln465Glu
XR_924947.1:n.1937C>G
NM_000203.5:c.1681C>G MANE Select	NP_000194.2:p.Gln561Glu
NM_001363576.1:c.1285C>G	NP_001350505.1:p.Gln429Glu
XM_011513461.2:c.1474C>G	XP_011511763.1:p.Gln492Glu
XM_017008163.1:c.721C>G	XP_016863652.1:p.Gln241Glu