Canonical Allele Identifier: CA2802233
Gene: IDUA HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.1002887C>A
GRCh37 chr4:g.996675C>A
Revel Score:
ENST00000247933 0.254
ENST00000453894 0.254
ENST00000514224 (MANE Select) 0.254
gnomAD v2:
4:996675 C / A
gnomAD v3:
4:1002887 C / A
gnomAD v4:
chr4-1002887-C-A
Joint Max Group AF 0.00259321 (NFE)
Genomes Max Group AF 0.00487544 (NFE)
Exomes Max Group AF 0.002418 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002887C>A , CM000666.2:g.1002887C>A GRCh38
NC_000004.11:g.996675C>A , CM000666.1:g.996675C>A GRCh37
NC_000004.10:g.986675C>A NCBI36
NG_008103.1:g.20891C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.1345C>A ENSP00000247933.4:p.His449Asn
ENST00000514224.2:c.1345C>A MANE Select ENSP00000425081.2:p.His449Asn
ENST00000652070.1:n.1401C>A
ENST00000247933.8:c.1345C>A ENSP00000247933.4:p.His449Asn
ENST00000502829.1:n.147C>A
ENST00000514224.1:c.949C>A ENSP00000425081.1:p.His317Asn
ENST00000514698.5:n.1452C>A
NM_000203.4:c.1345C>A NP_000194.2:p.His449Asn
NR_110313.1:n.1433C>A
XM_006713882.2:c.949C>A XP_006713945.1:p.His317Asn
XM_011513459.1:c.1411C>A XP_011511761.1:p.His471Asn
XM_011513460.1:c.1204C>A XP_011511762.1:p.His402Asn
XM_011513461.1:c.1138C>A XP_011511763.1:p.His380Asn
XM_011513462.1:c.1057C>A XP_011511764.1:p.His353Asn
XM_011513463.1:c.1057C>A XP_011511765.1:p.His353Asn
XR_924947.1:n.1414C>A
NM_000203.5:c.1345C>A MANE Select NP_000194.2:p.His449Asn
NM_001363576.1:c.949C>A NP_001350505.1:p.His317Asn
XM_011513461.2:c.1138C>A XP_011511763.1:p.His380Asn
XM_017008163.1:c.385C>A XP_016863652.1:p.His129Asn
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