Canonical Allele Identifier: CA256112

Gene: IDUA

Linked Data

• ClinVar Variation Id: 11910
• ClinVar RCV Id: RCV000012685 ; RCV000208595 ; RCV000486848 ; RCV000763533 ; RCV001267070
• dbSNP Id: rs121965021
• ExAC: 4:997206 C / G
• gnomAD v2: 4-997206-C-G
• gnomAD v3: 4-1003418-C-G
• gnomAD v4: 4-1003418-C-G
• MyVariant Identifiers: chr4:g.997206C>G (hg19) ; chr4:g.1003418C>G (hg38)
• PubMed: PMID:1301941 ; PMID:9427149 ; PMID:10738517 ; PMID:20301341

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003418C>G , CM000666.2:g.1003418C>G	GRCh38
NC_000004.11:g.997206C>G , CM000666.1:g.997206C>G	GRCh37
NC_000004.10:g.987206C>G	NCBI36
NG_008103.1:g.21422C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1598C>G	ENSP00000247933.4:p.Pro533Arg
ENST00000514224.2:c.1598C>G MANE Select	ENSP00000425081.2:p.Pro533Arg
ENST00000652070.1:n.1654C>G
ENST00000247933.8:c.1598C>G	ENSP00000247933.4:p.Pro533Arg
ENST00000514224.1:c.1202C>G	ENSP00000425081.1:p.Pro401Arg
ENST00000514698.5:n.1705C>G
NM_000203.4:c.1598C>G	NP_000194.2:p.Pro533Arg
NR_110313.1:n.1686C>G
XM_006713882.2:c.1202C>G	XP_006713945.1:p.Pro401Arg
XM_011513459.1:c.1664C>G	XP_011511761.1:p.Pro555Arg
XM_011513460.1:c.1457C>G	XP_011511762.1:p.Pro486Arg
XM_011513461.1:c.1391C>G	XP_011511763.1:p.Pro464Arg
XM_011513462.1:c.1310C>G	XP_011511764.1:p.Pro437Arg
XM_011513463.1:c.1310C>G	XP_011511765.1:p.Pro437Arg
XR_924947.1:n.1854C>G
NM_000203.5:c.1598C>G MANE Select	NP_000194.2:p.Pro533Arg
NM_001363576.1:c.1202C>G	NP_001350505.1:p.Pro401Arg
XM_011513461.2:c.1391C>G	XP_011511763.1:p.Pro464Arg
XM_017008163.1:c.638C>G	XP_016863652.1:p.Pro213Arg