Canonical Allele Identifier: CA248659
Gene: IDUA HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.1002767G>C
GRCh37 chr4:g.996555G>C
Revel Score:
ENST00000247933 0.466
ENST00000453894 0.466
ENST00000514224 (MANE Select) 0.466
gnomAD v2:
4:996555 G / C
gnomAD v3:
4:1002767 G / C
gnomAD v4:
chr4-1002767-G-C
Joint Max Group AF 0.05651719 (AFR)
Genomes Max Group AF 0.05732458 (AFR)
Exomes Max Group AF 0.05374959 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002767G>C , CM000666.2:g.1002767G>C GRCh38
NC_000004.11:g.996555G>C , CM000666.1:g.996555G>C GRCh37
NC_000004.10:g.986555G>C NCBI36
NG_008103.1:g.20771G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.1225G>C ENSP00000247933.4:p.Gly409Arg
ENST00000514224.2:c.1225G>C MANE Select ENSP00000425081.2:p.Gly409Arg
ENST00000652070.1:n.1281G>C
ENST00000247933.8:c.1225G>C ENSP00000247933.4:p.Gly409Arg
ENST00000502829.1:n.27G>C
ENST00000514224.1:c.829G>C ENSP00000425081.1:p.Gly277Arg
ENST00000514698.5:n.1332G>C
NM_000203.4:c.1225G>C NP_000194.2:p.Gly409Arg
NR_110313.1:n.1313G>C
XM_006713882.2:c.829G>C XP_006713945.1:p.Gly277Arg
XM_011513459.1:c.1291G>C XP_011511761.1:p.Gly431Arg
XM_011513460.1:c.1084G>C XP_011511762.1:p.Gly362Arg
XM_011513461.1:c.1018G>C XP_011511763.1:p.Gly340Arg
XM_011513462.1:c.937G>C XP_011511764.1:p.Gly313Arg
XM_011513463.1:c.937G>C XP_011511765.1:p.Gly313Arg
XR_924947.1:n.1294G>C
NM_000203.5:c.1225G>C MANE Select NP_000194.2:p.Gly409Arg
NM_001363576.1:c.829G>C NP_001350505.1:p.Gly277Arg
XM_011513461.2:c.1018G>C XP_011511763.1:p.Gly340Arg
XM_017008163.1:c.265G>C XP_016863652.1:p.Gly89Arg
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