Canonical Allele Identifier: CA91169863
Gene: IDUA HGNC NCBI

Linked Data

ClinVar Variation Id: 555230
ClinVar RCV Id: RCV003591770
dbSNP Id: rs991612107
MyVariant Identifiers: chr4:g.996536G>A (hg19) chr4:g.1002748G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002748G>A , CM000666.2:g.1002748G>A GRCh38
NC_000004.11:g.996536G>A , CM000666.1:g.996536G>A GRCh37
NC_000004.10:g.986536G>A NCBI36
NG_008103.1:g.20752G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000247933.9:c.1206G>A ENSP00000247933.4:p.Trp402Ter
ENST00000514224.2:c.1206G>A MANE Select ENSP00000425081.2:p.Trp402Ter
ENST00000652070.1:n.1262G>A
ENST00000247933.8:c.1206G>A ENSP00000247933.4:p.Trp402Ter
ENST00000502829.1:n.8G>A
ENST00000514224.1:c.810G>A ENSP00000425081.1:p.Trp270Ter
ENST00000514698.5:n.1313G>A
NM_000203.4:c.1206G>A NP_000194.2:p.Trp402Ter
NR_110313.1:n.1294G>A
XM_006713882.2:c.810G>A XP_006713945.1:p.Trp270Ter
XM_011513459.1:c.1272G>A XP_011511761.1:p.Trp424Ter
XM_011513460.1:c.1065G>A XP_011511762.1:p.Trp355Ter
XM_011513461.1:c.999G>A XP_011511763.1:p.Trp333Ter
XM_011513462.1:c.918G>A XP_011511764.1:p.Trp306Ter
XM_011513463.1:c.918G>A XP_011511765.1:p.Trp306Ter
XR_924947.1:n.1275G>A
NM_000203.5:c.1206G>A MANE Select NP_000194.2:p.Trp402Ter
NM_001363576.1:c.810G>A NP_001350505.1:p.Trp270Ter
XM_011513461.2:c.999G>A XP_011511763.1:p.Trp333Ter
XM_017008163.1:c.246G>A XP_016863652.1:p.Trp82Ter
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