Canonical Allele Identifier: CA648437282

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2156207
• ClinVar RCV Id: RCV003090860
• dbSNP Id: rs916954732
• gnomAD v3: 4-1003483-C-A
• gnomAD v4: 4-1003483-C-A
• COSMIC: COSN21416100
• MyVariant Identifiers: chr4:g.997271C>A (hg19) ; chr4:g.1003483C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003483C>A , CM000666.2:g.1003483C>A	GRCh38
NC_000004.11:g.997271C>A , CM000666.1:g.997271C>A	GRCh37
NC_000004.10:g.987271C>A	NCBI36
NG_008103.1:g.21487C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1650+13C>A	ENSP00000247933.4:n.1650+13C>A
ENST00000514224.2:c.1650+13C>A MANE Select	ENSP00000425081.2:n.1650+13C>A
ENST00000652070.1:n.1706+13C>A
ENST00000247933.8:c.1650+13C>A	ENSP00000247933.4:n.1650+13C>A
ENST00000514224.1:c.1254+13C>A	ENSP00000425081.1:n.1254+13C>A
ENST00000514417.1:n.42+13C>A
ENST00000514698.5:n.1757+13C>A
NM_000203.4:c.1650+13C>A	NP_000194.2:n.1650+13C>A
NR_110313.1:n.1738+13C>A
XM_006713882.2:c.1254+13C>A	XP_006713945.1:n.1254+13C>A
XM_011513459.1:c.1716+13C>A	XP_011511761.1:n.1716+13C>A
XM_011513460.1:c.1509+13C>A	XP_011511762.1:n.1509+13C>A
XM_011513461.1:c.1443+13C>A	XP_011511763.1:n.1443+13C>A
XM_011513462.1:c.1362+13C>A	XP_011511764.1:n.1362+13C>A
XM_011513463.1:c.1362+13C>A	XP_011511765.1:n.1362+13C>A
XR_924947.1:n.1906+13C>A
NM_000203.5:c.1650+13C>A MANE Select	NP_000194.2:n.1650+13C>A
NM_001363576.1:c.1254+13C>A	NP_001350505.1:n.1254+13C>A
XM_011513461.2:c.1443+13C>A	XP_011511763.1:n.1443+13C>A
XM_017008163.1:c.690+13C>A	XP_016863652.1:n.690+13C>A