Canonical Allele Identifier: CA2802126
Gene: IDUA HGNC NCBI

Linked Data

ClinVar Variation Id: 1683230
dbSNP Id: rs781534097
gnomAD v2: 4-995933-C-T
gnomAD v4: 4-1002145-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002145C>T , CM000666.2:g.1002145C>T GRCh38
NC_000004.11:g.995933C>T , CM000666.1:g.995933C>T GRCh37
NC_000004.10:g.985933C>T NCBI36
NG_008103.1:g.20149C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.956C>T ENSP00000247933.4:p.Ala319Val
ENST00000514224.2:c.956C>T MANE Select ENSP00000425081.2:p.Ala319Val
ENST00000652070.1:n.1012C>T
ENST00000247933.8:c.956C>T ENSP00000247933.4:p.Ala319Val
ENST00000514224.1:c.560C>T ENSP00000425081.1:p.Ala187Val
ENST00000514698.5:n.956C>T
NM_000203.4:c.956C>T NP_000194.2:p.Ala319Val
NR_110313.1:n.1044C>T
XM_006713882.2:c.560C>T XP_006713945.1:p.Ala187Val
XM_011513459.1:c.915C>T XP_011511761.1:p.Arg305=
XM_011513460.1:c.815C>T XP_011511762.1:p.Ala272Val
XM_011513461.1:c.749C>T XP_011511763.1:p.Ala250Val
XM_011513462.1:c.668C>T XP_011511764.1:p.Ala223Val
XM_011513463.1:c.668C>T XP_011511765.1:p.Ala223Val
XR_924947.1:n.1025C>T
NM_000203.5:c.956C>T MANE Select NP_000194.2:p.Ala319Val
NM_001363576.1:c.560C>T NP_001350505.1:p.Ala187Val
XM_011513461.2:c.749C>T XP_011511763.1:p.Ala250Val
XM_017008163.1:c.-5C>T XP_016863652.1:n.-5C>T