{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA355961915", "communityStandardTitle": [ "NM_000203.5(IDUA):c.608A>G (p.Asp203Gly)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1337124[alleleid]", "alleleId": 1337124, "preferredName": "NM_000203.5(IDUA):c.608A>G (p.Asp203Gly)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1504249", "RCV": [ "RCV002028654" ], "variationId": 1504249 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.995485A>G?assembly=hg19", "id": "chr4:g.995485A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.1001697A>G?assembly=hg38", "id": "chr4:g.1001697A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2153021978", "rs": 2153021978 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-1001697-A-G?dataset=gnomad_r4", "id": "4-1001697-A-G", "variant": "4:1001697 A / G" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "G", "end": 1001697, "referenceAllele": "A", "start": 1001696 } ], "hgvs": [ "NC_000004.12:g.1001697A>G", "CM000666.2:g.1001697A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "G", "end": 995485, "referenceAllele": "A", "start": 995484 } ], "hgvs": [ "NC_000004.11:g.995485A>G", "CM000666.1:g.995485A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "G", "end": 985485, "referenceAllele": "A", "start": 985484 } ], "hgvs": [ "NC_000004.10:g.985485A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "G", "end": 19701, "referenceAllele": "A", "start": 19700 } ], "hgvs": [ "NG_008103.1:g.19701A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000848" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 696, "referenceAllele": "A", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000247933.9:c.608A>G" ], "proteinEffect": { "hgvs": "ENSP00000247933.4:p.Asp203Gly", "hgvsWellDefined": "ENSP00000247933.4:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS741345" }, { "coordinates": [ { "allele": "G", "end": 649, "referenceAllele": "A", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514224.2:c.608A>G" ], "proteinEffect": { "hgvs": "ENSP00000425081.2:p.Asp203Gly", "hgvsWellDefined": "ENSP00000425081.2:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS758353", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000514224.2:c.608A>G" }, "RefSeq": { "hgvs": "NM_000203.5:c.608A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000425081.2:p.Asp203Gly" }, "RefSeq": { "hgvs": "NP_000194.2:p.Asp203Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 664, "referenceAllele": "A", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000652070.1:n.664A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS772009" }, { "coordinates": [ { "allele": "G", "end": 696, "referenceAllele": "A", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000247933.8:c.608A>G" ], "proteinEffect": { "hgvs": "ENSP00000247933.4:p.Asp203Gly", "hgvsWellDefined": "ENSP00000247933.4:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS249529" }, { "coordinates": [ { "allele": "G", "end": 508, "referenceAllele": "A", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000502910.5:c.467A>G" ], "proteinEffect": { "hgvs": "ENSP00000422952.1:p.Asp156Gly", "hgvsWellDefined": "ENSP00000422952.1:p.Asp156Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS335357" }, { "coordinates": [ { "allele": "G", "end": 568, "referenceAllele": "A", "start": 567 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000504568.5:c.568A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS336592" }, { "coordinates": [ { "allele": "G", "end": 668, "referenceAllele": "A", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000509948.5:c.401A>G" ], "proteinEffect": { "hgvs": "ENSP00000424227.1:p.Asp134Gly", "hgvsWellDefined": "ENSP00000424227.1:p.Asp134Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS340590" }, { "coordinates": [ { "allele": "G", "end": 425, "referenceAllele": "A", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514192.5:c.425A>G" ], "proteinEffect": { "hgvs": "ENSP00000423685.1:p.Asp142Gly", "hgvsWellDefined": "ENSP00000423685.1:p.Asp142Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS343739" }, { "coordinates": [ { "allele": "G", "end": 664, "referenceAllele": "A", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514224.1:c.212A>G" ], "proteinEffect": { "hgvs": "ENSP00000425081.1:p.Asp71Gly", "hgvsWellDefined": "ENSP00000425081.1:p.Asp71Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS343765" }, { "coordinates": [ { "allele": "G", "end": 508, "referenceAllele": "A", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514698.5:n.508A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS344122" }, { "@id": "http://reg.genome.network/allele/PA2825082392", "coordinates": [ { "allele": "G", "end": 696, "referenceAllele": "A", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_000203.4:c.608A>G" ], "proteinEffect": { "hgvs": "NP_000194.2:p.Asp203Gly", "hgvsWellDefined": "NP_000194.2:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS006267" }, { "coordinates": [ { "allele": "G", "end": 696, "referenceAllele": "A", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NR_110313.1:n.696A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS054592" }, { "coordinates": [ { "allele": "G", "end": 950, "referenceAllele": "A", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_006713882.2:c.212A>G" ], "proteinEffect": { "hgvs": "XP_006713945.1:p.Asp71Gly", "hgvsWellDefined": "XP_006713945.1:p.Asp71Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS070402" }, { "coordinates": [ { "allele": "G", "end": 508, "referenceAllele": "A", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513459.1:c.467A>G" ], "proteinEffect": { "hgvs": "XP_011511761.1:p.Asp156Gly", "hgvsWellDefined": "XP_011511761.1:p.Asp156Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS080706" }, { "coordinates": [ { "allele": "G", "end": 508, "referenceAllele": "A", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513460.1:c.467A>G" ], "proteinEffect": { "hgvs": "XP_011511762.1:p.Asp156Gly", "hgvsWellDefined": "XP_011511762.1:p.Asp156Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS080707" }, { "coordinates": [ { "allele": "G", "end": 668, "referenceAllele": "A", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.1:c.401A>G" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Asp134Gly", "hgvsWellDefined": "XP_011511763.1:p.Asp134Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS080708" }, { "coordinates": [ { "allele": "G", "end": 1217, "referenceAllele": "A", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513462.1:c.320A>G" ], "proteinEffect": { "hgvs": "XP_011511764.1:p.Asp107Gly", "hgvsWellDefined": "XP_011511764.1:p.Asp107Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS080709" }, { "coordinates": [ { "allele": "G", "end": 515, "referenceAllele": "A", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513463.1:c.320A>G" ], "proteinEffect": { "hgvs": "XP_011511765.1:p.Asp107Gly", "hgvsWellDefined": "XP_011511765.1:p.Asp107Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS080710" }, { "coordinates": [ { "allele": "G", "end": 677, "referenceAllele": "A", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XR_924947.1:n.677A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS121993" }, { "@id": "http://reg.genome.network/allele/PA2825082392", "coordinates": [ { "allele": "G", "end": 649, "referenceAllele": "A", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_000203.5:c.608A>G" ], "proteinEffect": { "hgvs": "NP_000194.2:p.Asp203Gly", "hgvsWellDefined": "NP_000194.2:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS510765", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000514224.2:c.608A>G" }, "RefSeq": { "hgvs": "NM_000203.5:c.608A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000425081.2:p.Asp203Gly" }, "RefSeq": { "hgvs": "NP_000194.2:p.Asp203Gly" } } } }, { "@id": "http://reg.genome.network/allele/PA2573208215", "coordinates": [ { "allele": "G", "end": 664, "referenceAllele": "A", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_001363576.1:c.212A>G" ], "proteinEffect": { "hgvs": "NP_001350505.1:p.Asp71Gly", "hgvsWellDefined": "NP_001350505.1:p.Asp71Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS523396" }, { "coordinates": [ { "allele": "G", "end": 841, "referenceAllele": "A", "start": 840 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.2:c.401A>G" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Asp134Gly", "hgvsWellDefined": "XP_011511763.1:p.Asp134Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS542922" }, { "coordinates": [ { "allele": "G", "end": 1150, "referenceAllele": "A", "start": 1149 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_017008163.1:c.-353A>G" ], "proteinEffect": { "hgvs": "XP_016863652.1:n.-353A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS562720" } ], "type": "nucleotide" }