Canonical Allele Identifier: CA16618019
Gene: IDUA HGNC NCBI

Linked Data

ClinVar Variation Id: 424024
ClinVar RCV Id: RCV000482839
dbSNP Id: rs1064796754

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1001528A>C , CM000666.2:g.1001528A>C GRCh38
NC_000004.11:g.995316A>C , CM000666.1:g.995316A>C GRCh37
NC_000004.10:g.985316A>C NCBI36
NG_008103.1:g.19532A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000247933.9:c.554A>C ENSP00000247933.4:p.His185Pro
ENST00000514224.2:c.554A>C MANE Select ENSP00000425081.2:p.His185Pro
ENST00000652070.1:n.610A>C
ENST00000247933.8:c.554A>C ENSP00000247933.4:p.His185Pro
ENST00000502910.5:c.413A>C ENSP00000422952.1:p.His138Pro
ENST00000504568.5:c.514A>C
ENST00000509948.5:c.347A>C ENSP00000424227.1:p.His116Pro
ENST00000514192.5:c.371A>C ENSP00000423685.1:p.His124Pro
ENST00000514224.1:c.158A>C ENSP00000425081.1:p.His53Pro
ENST00000514698.5:n.454A>C
NM_000203.4:c.554A>C NP_000194.2:p.His185Pro
NR_110313.1:n.642A>C
XM_006713882.2:c.158A>C XP_006713945.1:p.His53Pro
XM_011513459.1:c.413A>C XP_011511761.1:p.His138Pro
XM_011513460.1:c.413A>C XP_011511762.1:p.His138Pro
XM_011513461.1:c.347A>C XP_011511763.1:p.His116Pro
XM_011513462.1:c.266A>C XP_011511764.1:p.His89Pro
XM_011513463.1:c.266A>C XP_011511765.1:p.His89Pro
XR_924947.1:n.623A>C
NM_000203.5:c.554A>C MANE Select NP_000194.2:p.His185Pro
NM_001363576.1:c.158A>C NP_001350505.1:p.His53Pro
XM_011513461.2:c.347A>C XP_011511763.1:p.His116Pro
XM_017008163.1:c.-435A>C XP_016863652.1:n.-435A>C