{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2802173", "communityStandardTitle": [ "NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=923376[alleleid]", "alleleId": 923376, "preferredName": "NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/950889", "RCV": [ "RCV001222699", "RCV001586065" ], "variationId": 950889 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/4-996130-A-G", "id": "4-996130-A-G", "variant": "4:996130 A / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.996130A>G?assembly=hg19", "id": "chr4:g.996130A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.1002342A>G?assembly=hg38", "id": "chr4:g.1002342A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/371397270", "rs": 371397270 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-996130-A-G?dataset=gnomad_r2_1", "id": "4-996130-A-G", "variant": "4:996130 A / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-1002342-A-G?dataset=gnomad_r3", "id": "4-1002342-A-G", "variant": "4:1002342 A / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-1002342-A-G?dataset=gnomad_r4", "id": "4-1002342-A-G", "variant": "4:1002342 A / G" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "G", "end": 1002342, "referenceAllele": "A", "start": 1002341 } ], "hgvs": [ "NC_000004.12:g.1002342A>G", "CM000666.2:g.1002342A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "G", "end": 996130, "referenceAllele": "A", "start": 996129 } ], "hgvs": [ "NC_000004.11:g.996130A>G", "CM000666.1:g.996130A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "G", "end": 986130, "referenceAllele": "A", "start": 986129 } ], "hgvs": [ "NC_000004.10:g.986130A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "G", "end": 20346, "referenceAllele": "A", "start": 20345 } ], "hgvs": [ "NG_008103.1:g.20346A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000848" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1134, "referenceAllele": "A", "start": 1133 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000247933.9:c.1046A>G" ], "proteinEffect": { "hgvs": "ENSP00000247933.4:p.Asp349Gly", "hgvsWellDefined": "ENSP00000247933.4:p.Asp349Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS741345" }, { "coordinates": [ { "allele": "G", "end": 1087, "referenceAllele": "A", "start": 1086 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514224.2:c.1046A>G" ], "proteinEffect": { "hgvs": "ENSP00000425081.2:p.Asp349Gly", "hgvsWellDefined": "ENSP00000425081.2:p.Asp349Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS758353", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000514224.2:c.1046A>G" }, "RefSeq": { "hgvs": "NM_000203.5:c.1046A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000425081.2:p.Asp349Gly" }, "RefSeq": { "hgvs": "NP_000194.2:p.Asp349Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 1102, "referenceAllele": "A", "start": 1101 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000652070.1:n.1102A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS772009" }, { "coordinates": [ { "allele": "G", "end": 1134, "referenceAllele": "A", "start": 1133 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000247933.8:c.1046A>G" ], "proteinEffect": { "hgvs": "ENSP00000247933.4:p.Asp349Gly", "hgvsWellDefined": "ENSP00000247933.4:p.Asp349Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS249529" }, { "coordinates": [ { "allele": "G", "end": 1102, "referenceAllele": "A", "start": 1101 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514224.1:c.650A>G" ], "proteinEffect": { "hgvs": "ENSP00000425081.1:p.Asp217Gly", "hgvsWellDefined": "ENSP00000425081.1:p.Asp217Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS343765" }, { "coordinates": [ { "allele": "G", "end": 1153, "referenceAllele": "A", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514698.5:n.1153A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS344122" }, { "@id": "http://reg.genome.network/allele/PA1139681447", "coordinates": [ { "allele": "G", "end": 1134, "referenceAllele": "A", "start": 1133 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_000203.4:c.1046A>G" ], "proteinEffect": { "hgvs": "NP_000194.2:p.Asp349Gly", "hgvsWellDefined": "NP_000194.2:p.Asp349Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS006267" }, { "coordinates": [ { "allele": "G", "end": 1134, "referenceAllele": "A", "start": 1133 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NR_110313.1:n.1134A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS054592" }, { "coordinates": [ { "allele": "G", "end": 1388, "referenceAllele": "A", "start": 1387 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_006713882.2:c.650A>G" ], "proteinEffect": { "hgvs": "XP_006713945.1:p.Asp217Gly", "hgvsWellDefined": "XP_006713945.1:p.Asp217Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS070402" }, { "coordinates": [ { "allele": "G", "end": 1153, "referenceAllele": "A", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513459.1:c.1112A>G" ], "proteinEffect": { "hgvs": "XP_011511761.1:p.Asp371Gly", "hgvsWellDefined": "XP_011511761.1:p.Asp371Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS080706" }, { "coordinates": [ { "allele": "G", "end": 946, "referenceAllele": "A", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513460.1:c.905A>G" ], "proteinEffect": { "hgvs": "XP_011511762.1:p.Asp302Gly", "hgvsWellDefined": "XP_011511762.1:p.Asp302Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS080707" }, { "coordinates": [ { "allele": "G", "end": 1106, "referenceAllele": "A", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.1:c.839A>G" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Asp280Gly", "hgvsWellDefined": "XP_011511763.1:p.Asp280Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS080708" }, { "coordinates": [ { "allele": "G", "end": 1655, "referenceAllele": "A", "start": 1654 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513462.1:c.758A>G" ], "proteinEffect": { "hgvs": "XP_011511764.1:p.Asp253Gly", "hgvsWellDefined": "XP_011511764.1:p.Asp253Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS080709" }, { "coordinates": [ { "allele": "G", "end": 953, "referenceAllele": "A", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513463.1:c.758A>G" ], "proteinEffect": { "hgvs": "XP_011511765.1:p.Asp253Gly", "hgvsWellDefined": "XP_011511765.1:p.Asp253Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS080710" }, { "coordinates": [ { "allele": "G", "end": 1115, "referenceAllele": "A", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XR_924947.1:n.1115A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS121993" }, { "@id": "http://reg.genome.network/allele/PA1139681447", "coordinates": [ { "allele": "G", "end": 1087, "referenceAllele": "A", "start": 1086 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_000203.5:c.1046A>G" ], "proteinEffect": { "hgvs": "NP_000194.2:p.Asp349Gly", "hgvsWellDefined": "NP_000194.2:p.Asp349Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS510765", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000514224.2:c.1046A>G" }, "RefSeq": { "hgvs": "NM_000203.5:c.1046A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000425081.2:p.Asp349Gly" }, "RefSeq": { "hgvs": "NP_000194.2:p.Asp349Gly" } } } }, { "@id": "http://reg.genome.network/allele/PA2828097278", "coordinates": [ { "allele": "G", "end": 1102, "referenceAllele": "A", "start": 1101 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_001363576.1:c.650A>G" ], "proteinEffect": { "hgvs": "NP_001350505.1:p.Asp217Gly", "hgvsWellDefined": "NP_001350505.1:p.Asp217Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS523396" }, { "coordinates": [ { "allele": "G", "end": 1279, "referenceAllele": "A", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.2:c.839A>G" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Asp280Gly", "hgvsWellDefined": "XP_011511763.1:p.Asp280Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS542922" }, { "coordinates": [ { "allele": "G", "end": 1588, "referenceAllele": "A", "start": 1587 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_017008163.1:c.86A>G" ], "proteinEffect": { "hgvs": "XP_016863652.1:p.Asp29Gly", "hgvsWellDefined": "XP_016863652.1:p.Asp29Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS562720" } ], "type": "nucleotide" }