{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA91169920", "communityStandardTitle": [ "NM_000203.5(IDUA):c.1225G>A (p.Gly409Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1071288[alleleid]", "alleleId": 1071288, "preferredName": "NM_000203.5(IDUA):c.1225G>A (p.Gly409Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1084956", "RCV": [ "RCV001402162" ], "variationId": 1084956 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.996555G>A?assembly=hg19", "id": "chr4:g.996555G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.1002767G>A?assembly=hg38", "id": "chr4:g.1002767G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/11934801", "rs": 11934801 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-1002767-G-A?dataset=gnomad_r4", "id": "4-1002767-G-A", "variant": "4:1002767 G / A" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 1002767, "referenceAllele": "G", "start": 1002766 } ], "hgvs": [ "NC_000004.12:g.1002767G>A", "CM000666.2:g.1002767G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 996555, "referenceAllele": "G", "start": 996554 } ], "hgvs": [ "NC_000004.11:g.996555G>A", "CM000666.1:g.996555G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 986555, "referenceAllele": "G", "start": 986554 } ], "hgvs": [ "NC_000004.10:g.986555G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 20771, "referenceAllele": "G", "start": 20770 } ], "hgvs": [ "NG_008103.1:g.20771G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000848" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1313, "referenceAllele": "G", "start": 1312 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000247933.9:c.1225G>A" ], "proteinEffect": { "hgvs": "ENSP00000247933.4:p.Gly409Arg", "hgvsWellDefined": "ENSP00000247933.4:p.Gly409Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS741345" }, { "coordinates": [ { "allele": "A", "end": 1266, "referenceAllele": "G", "start": 1265 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514224.2:c.1225G>A" ], "proteinEffect": { "hgvs": "ENSP00000425081.2:p.Gly409Arg", "hgvsWellDefined": "ENSP00000425081.2:p.Gly409Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS758353", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000514224.2:c.1225G>A" }, "RefSeq": { "hgvs": "NM_000203.5:c.1225G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000425081.2:p.Gly409Arg" }, "RefSeq": { "hgvs": "NP_000194.2:p.Gly409Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 1281, "referenceAllele": "G", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000652070.1:n.1281G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772009" }, { "coordinates": [ { "allele": "A", "end": 1313, "referenceAllele": "G", "start": 1312 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000247933.8:c.1225G>A" ], "proteinEffect": { "hgvs": "ENSP00000247933.4:p.Gly409Arg", "hgvsWellDefined": "ENSP00000247933.4:p.Gly409Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS249529" }, { "coordinates": [ { "allele": "A", "end": 27, "referenceAllele": "G", "start": 26 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000502829.1:n.27G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS335295" }, { "coordinates": [ { "allele": "A", "end": 1281, "referenceAllele": "G", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514224.1:c.829G>A" ], "proteinEffect": { "hgvs": "ENSP00000425081.1:p.Gly277Arg", "hgvsWellDefined": "ENSP00000425081.1:p.Gly277Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS343765" }, { "coordinates": [ { "allele": "A", "end": 1332, "referenceAllele": "G", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514698.5:n.1332G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS344122" }, { "@id": "http://reg.genome.network/allele/PA108058", "coordinates": [ { "allele": "A", "end": 1313, "referenceAllele": "G", "start": 1312 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_000203.4:c.1225G>A" ], "proteinEffect": { "hgvs": "NP_000194.2:p.Gly409Arg", "hgvsWellDefined": "NP_000194.2:p.Gly409Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS006267" }, { "coordinates": [ { "allele": "A", "end": 1313, "referenceAllele": "G", "start": 1312 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NR_110313.1:n.1313G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS054592" }, { "coordinates": [ { "allele": "A", "end": 1567, "referenceAllele": "G", "start": 1566 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_006713882.2:c.829G>A" ], "proteinEffect": { "hgvs": "XP_006713945.1:p.Gly277Arg", "hgvsWellDefined": "XP_006713945.1:p.Gly277Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS070402" }, { "coordinates": [ { "allele": "A", "end": 1332, "referenceAllele": "G", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513459.1:c.1291G>A" ], "proteinEffect": { "hgvs": "XP_011511761.1:p.Gly431Arg", "hgvsWellDefined": "XP_011511761.1:p.Gly431Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS080706" }, { "coordinates": [ { "allele": "A", "end": 1125, "referenceAllele": "G", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513460.1:c.1084G>A" ], "proteinEffect": { "hgvs": "XP_011511762.1:p.Gly362Arg", "hgvsWellDefined": "XP_011511762.1:p.Gly362Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS080707" }, { "coordinates": [ { "allele": "A", "end": 1285, "referenceAllele": "G", "start": 1284 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.1:c.1018G>A" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Gly340Arg", "hgvsWellDefined": "XP_011511763.1:p.Gly340Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS080708" }, { "coordinates": [ { "allele": "A", "end": 1834, "referenceAllele": "G", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513462.1:c.937G>A" ], "proteinEffect": { "hgvs": "XP_011511764.1:p.Gly313Arg", "hgvsWellDefined": "XP_011511764.1:p.Gly313Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS080709" }, { "coordinates": [ { "allele": "A", "end": 1132, "referenceAllele": "G", "start": 1131 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513463.1:c.937G>A" ], "proteinEffect": { "hgvs": "XP_011511765.1:p.Gly313Arg", "hgvsWellDefined": "XP_011511765.1:p.Gly313Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS080710" }, { "coordinates": [ { "allele": "A", "end": 1294, "referenceAllele": "G", "start": 1293 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XR_924947.1:n.1294G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS121993" }, { "@id": "http://reg.genome.network/allele/PA108058", "coordinates": [ { "allele": "A", "end": 1266, "referenceAllele": "G", "start": 1265 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_000203.5:c.1225G>A" ], "proteinEffect": { "hgvs": "NP_000194.2:p.Gly409Arg", "hgvsWellDefined": "NP_000194.2:p.Gly409Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS510765", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000514224.2:c.1225G>A" }, "RefSeq": { "hgvs": "NM_000203.5:c.1225G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000425081.2:p.Gly409Arg" }, "RefSeq": { "hgvs": "NP_000194.2:p.Gly409Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2828097385", "coordinates": [ { "allele": "A", "end": 1281, "referenceAllele": "G", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_001363576.1:c.829G>A" ], "proteinEffect": { "hgvs": "NP_001350505.1:p.Gly277Arg", "hgvsWellDefined": "NP_001350505.1:p.Gly277Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS523396" }, { "coordinates": [ { "allele": "A", "end": 1458, "referenceAllele": "G", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.2:c.1018G>A" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Gly340Arg", "hgvsWellDefined": "XP_011511763.1:p.Gly340Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS542922" }, { "coordinates": [ { "allele": "A", "end": 1767, "referenceAllele": "G", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_017008163.1:c.265G>A" ], "proteinEffect": { "hgvs": "XP_016863652.1:p.Gly89Arg", "hgvsWellDefined": "XP_016863652.1:p.Gly89Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS562720" } ], "type": "nucleotide" }