Canonical Allele Identifier: CA256112
Gene: IDUA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11910
dbSNP Id: rs121965021

User contributed link-outs

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
NM_000203.4:c.1598C>G VV 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 VV
NM_001363576.1:c.1202C>G VV NP_001350505.1:p.Pro401Arg
XM_011513461.2:c.1391C>G
XM_017008163.1:c.638C>G XP_016863652.1:p.Pro213Arg
ENST00000247933.8:c.1598C>G ENSP00000247933.4:p.Pro533Arg
ENST00000514224.1:c.1202C>G ENSP00000425081.1:p.Pro401Arg
ENST00000514698.5:n.1705C>G