Canonical Allele Identifier: CA145865
Gene: IDUA HGNC NCBI

Linked Data

ClinVar Variation Id: 92624
ClinVar RCV Id: RCV001526424
dbSNP Id: rs6831280
ExAC: 4:996165 G / A
gnomAD v2: 4-996165-G-A
gnomAD v3: 4-1002377-G-A
gnomAD v4: 4-1002377-G-A
MyVariant Identifiers: chr4:g.996165G>A (hg19) chr4:g.1002377G>A (hg38)
PubMed: PMID:20301341
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002377G>A , CM000666.2:g.1002377G>A GRCh38
NC_000004.11:g.996165G>A , CM000666.1:g.996165G>A GRCh37
NC_000004.10:g.986165G>A NCBI36
NG_008103.1:g.20381G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000247933.9:c.1081G>A ENSP00000247933.4:p.Ala361Thr
ENST00000514224.2:c.1081G>A MANE Select ENSP00000425081.2:p.Ala361Thr
ENST00000652070.1:n.1137G>A
ENST00000247933.8:c.1081G>A ENSP00000247933.4:p.Ala361Thr
ENST00000514224.1:c.685G>A ENSP00000425081.1:p.Ala229Thr
ENST00000514698.5:n.1188G>A
NM_000203.4:c.1081G>A NP_000194.2:p.Ala361Thr
NR_110313.1:n.1169G>A
XM_006713882.2:c.685G>A XP_006713945.1:p.Ala229Thr
XM_011513459.1:c.1147G>A XP_011511761.1:p.Ala383Thr
XM_011513460.1:c.940G>A XP_011511762.1:p.Ala314Thr
XM_011513461.1:c.874G>A XP_011511763.1:p.Ala292Thr
XM_011513462.1:c.793G>A XP_011511764.1:p.Ala265Thr
XM_011513463.1:c.793G>A XP_011511765.1:p.Ala265Thr
XR_924947.1:n.1150G>A
NM_000203.5:c.1081G>A MANE Select NP_000194.2:p.Ala361Thr
NM_001363576.1:c.685G>A NP_001350505.1:p.Ala229Thr
XM_011513461.2:c.874G>A XP_011511763.1:p.Ala292Thr
XM_017008163.1:c.121G>A XP_016863652.1:p.Ala41Thr
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