Canonical Allele Identifier: CA220503
Gene: IDUA HGNC NCBI

Linked Data

ClinVar Variation Id: 11919
dbSNP Id: rs121965027
gnomAD v2: 4-996890-T-C
gnomAD v3: 4-1003102-T-C
gnomAD v4: 4-1003102-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1003102T>C , CM000666.2:g.1003102T>C GRCh38
NC_000004.11:g.996890T>C , CM000666.1:g.996890T>C GRCh37
NC_000004.10:g.986890T>C NCBI36
NG_008103.1:g.21106T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.1469T>C ENSP00000247933.4:p.Leu490Pro
ENST00000514224.2:c.1469T>C MANE Select ENSP00000425081.2:p.Leu490Pro
ENST00000652070.1:n.1525T>C
ENST00000247933.8:c.1469T>C ENSP00000247933.4:p.Leu490Pro
ENST00000502829.1:n.271T>C
ENST00000514224.1:c.1073T>C ENSP00000425081.1:p.Leu358Pro
ENST00000514698.5:n.1576T>C
NM_000203.4:c.1469T>C NP_000194.2:p.Leu490Pro
NR_110313.1:n.1557T>C
XM_006713882.2:c.1073T>C XP_006713945.1:p.Leu358Pro
XM_011513459.1:c.1535T>C XP_011511761.1:p.Leu512Pro
XM_011513460.1:c.1328T>C XP_011511762.1:p.Leu443Pro
XM_011513461.1:c.1262T>C XP_011511763.1:p.Leu421Pro
XM_011513462.1:c.1181T>C XP_011511764.1:p.Leu394Pro
XM_011513463.1:c.1181T>C XP_011511765.1:p.Leu394Pro
XR_924947.1:n.1538T>C
NM_000203.5:c.1469T>C MANE Select NP_000194.2:p.Leu490Pro
NM_001363576.1:c.1073T>C NP_001350505.1:p.Leu358Pro
XM_011513461.2:c.1262T>C XP_011511763.1:p.Leu421Pro
XM_017008163.1:c.509T>C XP_016863652.1:p.Leu170Pro