Canonical Allele Identifier: CA2802085
Gene: IDUA HGNC NCBI

Linked Data

ClinVar Variation Id: 550605
dbSNP Id: rs201268637
gnomAD v2: 4-995664-A-T
gnomAD v3: 4-1001876-A-T
gnomAD v4: 4-1001876-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1001876A>T , CM000666.2:g.1001876A>T GRCh38
NC_000004.11:g.995664A>T , CM000666.1:g.995664A>T GRCh37
NC_000004.10:g.985664A>T NCBI36
NG_008103.1:g.19880A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.787A>T ENSP00000247933.4:p.Arg263Trp
ENST00000514224.2:c.787A>T MANE Select ENSP00000425081.2:p.Arg263Trp
ENST00000652070.1:n.843A>T
ENST00000247933.8:c.787A>T ENSP00000247933.4:p.Arg263Trp
ENST00000502910.5:c.646A>T ENSP00000422952.1:p.Arg216Trp
ENST00000514192.5:c.604A>T ENSP00000423685.1:p.Arg202Trp
ENST00000514224.1:c.391A>T ENSP00000425081.1:p.Arg131Trp
ENST00000514698.5:n.687A>T
NM_000203.4:c.787A>T NP_000194.2:p.Arg263Trp
NR_110313.1:n.875A>T
XM_006713882.2:c.391A>T XP_006713945.1:p.Arg131Trp
XM_011513459.1:c.646A>T XP_011511761.1:p.Arg216Trp
XM_011513460.1:c.646A>T XP_011511762.1:p.Arg216Trp
XM_011513461.1:c.580A>T XP_011511763.1:p.Arg194Trp
XM_011513462.1:c.499A>T XP_011511764.1:p.Arg167Trp
XM_011513463.1:c.499A>T XP_011511765.1:p.Arg167Trp
XR_924947.1:n.856A>T
NM_000203.5:c.787A>T MANE Select NP_000194.2:p.Arg263Trp
NM_001363576.1:c.391A>T NP_001350505.1:p.Arg131Trp
XM_011513461.2:c.580A>T XP_011511763.1:p.Arg194Trp
XM_017008163.1:c.-174A>T XP_016863652.1:n.-174A>T