{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2801966", "communityStandardTitle": [ "NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=953611[alleleid]", "alleleId": 953611, "preferredName": "NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/971486", "RCV": [ "RCV001247276", "RCV002480846", "RCV003987813", "RCV004034891" ], "variationId": 971486 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/4-995256-G-A", "id": "4-995256-G-A", "variant": "4:995256 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.995256G>A?assembly=hg19", "id": "chr4:g.995256G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.1001468G>A?assembly=hg38", "id": "chr4:g.1001468G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/150763745", "rs": 150763745 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-995256-G-A?dataset=gnomad_r2_1", "id": "4-995256-G-A", "variant": "4:995256 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-1001468-G-A?dataset=gnomad_r3", "id": "4-1001468-G-A", "variant": "4:1001468 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-1001468-G-A?dataset=gnomad_r4", "id": "4-1001468-G-A", "variant": "4:1001468 G / A" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 1001468, "referenceAllele": "G", "start": 1001467 } ], "hgvs": [ "NC_000004.12:g.1001468G>A", "CM000666.2:g.1001468G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 995256, "referenceAllele": "G", "start": 995255 } ], "hgvs": [ "NC_000004.11:g.995256G>A", "CM000666.1:g.995256G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 985256, "referenceAllele": "G", "start": 985255 } ], "hgvs": [ "NC_000004.10:g.985256G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 19472, "referenceAllele": "G", "start": 19471 } ], "hgvs": [ "NG_008103.1:g.19472G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000848" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 582, "referenceAllele": "G", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000247933.9:c.494G>A" ], "proteinEffect": { "hgvs": "ENSP00000247933.4:p.Gly165Asp", "hgvsWellDefined": "ENSP00000247933.4:p.Gly165Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS741345" }, { "coordinates": [ { "allele": "A", "end": 535, "referenceAllele": "G", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514224.2:c.494G>A" ], "proteinEffect": { "hgvs": "ENSP00000425081.2:p.Gly165Asp", "hgvsWellDefined": "ENSP00000425081.2:p.Gly165Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS758353", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000514224.2:c.494G>A" }, "RefSeq": { "hgvs": "NM_000203.5:c.494G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000425081.2:p.Gly165Asp" }, "RefSeq": { "hgvs": "NP_000194.2:p.Gly165Asp" } } } }, { "coordinates": [ { "allele": "A", "end": 550, "referenceAllele": "G", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000652070.1:n.550G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772009" }, { "coordinates": [ { "allele": "A", "end": 582, "referenceAllele": "G", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000247933.8:c.494G>A" ], "proteinEffect": { "hgvs": "ENSP00000247933.4:p.Gly165Asp", "hgvsWellDefined": "ENSP00000247933.4:p.Gly165Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS249529" }, { "coordinates": [ { "allele": "A", "end": 394, "referenceAllele": "G", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000502910.5:c.353G>A" ], "proteinEffect": { "hgvs": "ENSP00000422952.1:p.Gly118Asp", "hgvsWellDefined": "ENSP00000422952.1:p.Gly118Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS335357" }, { "coordinates": [ { "allele": "A", "end": 454, "referenceAllele": "G", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000504568.5:c.454G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS336592" }, { "coordinates": [ { "allele": "A", "end": 554, "referenceAllele": "G", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000509948.5:c.287G>A" ], "proteinEffect": { "hgvs": "ENSP00000424227.1:p.Gly96Asp", "hgvsWellDefined": "ENSP00000424227.1:p.Gly96Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS340590" }, { "coordinates": [ { "allele": "A", "end": 311, "referenceAllele": "G", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514192.5:c.311G>A" ], "proteinEffect": { "hgvs": "ENSP00000423685.1:p.Gly104Asp", "hgvsWellDefined": "ENSP00000423685.1:p.Gly104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS343739" }, { "coordinates": [ { "allele": "A", "end": 550, "referenceAllele": "G", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514224.1:c.98G>A" ], "proteinEffect": { "hgvs": "ENSP00000425081.1:p.Gly33Asp", "hgvsWellDefined": "ENSP00000425081.1:p.Gly33Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS343765" }, { "coordinates": [ { "allele": "A", "end": 394, "referenceAllele": "G", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514698.5:n.394G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS344122" }, { "@id": "http://reg.genome.network/allele/PA2825082295", "coordinates": [ { "allele": "A", "end": 582, "referenceAllele": "G", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_000203.4:c.494G>A" ], "proteinEffect": { "hgvs": "NP_000194.2:p.Gly165Asp", "hgvsWellDefined": "NP_000194.2:p.Gly165Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS006267" }, { "coordinates": [ { "allele": "A", "end": 582, "referenceAllele": "G", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NR_110313.1:n.582G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS054592" }, { "coordinates": [ { "allele": "A", "end": 836, "referenceAllele": "G", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_006713882.2:c.98G>A" ], "proteinEffect": { "hgvs": "XP_006713945.1:p.Gly33Asp", "hgvsWellDefined": "XP_006713945.1:p.Gly33Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS070402" }, { "coordinates": [ { "allele": "A", "end": 394, "referenceAllele": "G", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513459.1:c.353G>A" ], "proteinEffect": { "hgvs": "XP_011511761.1:p.Gly118Asp", "hgvsWellDefined": "XP_011511761.1:p.Gly118Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS080706" }, { "coordinates": [ { "allele": "A", "end": 394, "referenceAllele": "G", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513460.1:c.353G>A" ], "proteinEffect": { "hgvs": "XP_011511762.1:p.Gly118Asp", "hgvsWellDefined": "XP_011511762.1:p.Gly118Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS080707" }, { "coordinates": [ { "allele": "A", "end": 554, "referenceAllele": "G", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.1:c.287G>A" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Gly96Asp", "hgvsWellDefined": "XP_011511763.1:p.Gly96Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS080708" }, { "coordinates": [ { "allele": "A", "end": 1103, "referenceAllele": "G", "start": 1102 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513462.1:c.206G>A" ], "proteinEffect": { "hgvs": "XP_011511764.1:p.Gly69Asp", "hgvsWellDefined": "XP_011511764.1:p.Gly69Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS080709" }, { "coordinates": [ { "allele": "A", "end": 401, "referenceAllele": "G", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513463.1:c.206G>A" ], "proteinEffect": { "hgvs": "XP_011511765.1:p.Gly69Asp", "hgvsWellDefined": "XP_011511765.1:p.Gly69Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS080710" }, { "coordinates": [ { "allele": "A", "end": 563, "referenceAllele": "G", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XR_924947.1:n.563G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS121993" }, { "@id": "http://reg.genome.network/allele/PA2825082295", "coordinates": [ { "allele": "A", "end": 535, "referenceAllele": "G", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_000203.5:c.494G>A" ], "proteinEffect": { "hgvs": "NP_000194.2:p.Gly165Asp", "hgvsWellDefined": "NP_000194.2:p.Gly165Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS510765", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000514224.2:c.494G>A" }, "RefSeq": { "hgvs": "NM_000203.5:c.494G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000425081.2:p.Gly165Asp" }, "RefSeq": { "hgvs": "NP_000194.2:p.Gly165Asp" } } } }, { "@id": "http://reg.genome.network/allele/PA1139741372", "coordinates": [ { "allele": "A", "end": 550, "referenceAllele": "G", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_001363576.1:c.98G>A" ], "proteinEffect": { "hgvs": "NP_001350505.1:p.Gly33Asp", "hgvsWellDefined": "NP_001350505.1:p.Gly33Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS523396" }, { "coordinates": [ { "allele": "A", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.2:c.287G>A" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Gly96Asp", "hgvsWellDefined": "XP_011511763.1:p.Gly96Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS542922" }, { "coordinates": [ { "allele": "A", "end": 1008, "referenceAllele": "G", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_017008163.1:c.-495G>A" ], "proteinEffect": { "hgvs": "XP_016863652.1:n.-495G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS562720" } ], "type": "nucleotide" }