{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4289988",
  "communityStandardTitle": [
    "NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=964835[alleleid]",
        "alleleId": 964835,
        "preferredName": "NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/976691",
        "RCV": [
          "RCV001254067",
          "RCV001523899",
          "RCV001291562",
          "RCV003336359"
        ],
        "variationId": 976691
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-73097602-T-C",
        "id": "7-73097602-T-C",
        "variant": "7:73097602 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.73097602T>C?assembly=hg19",
        "id": "chr7:g.73097602T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.73683272T>C?assembly=hg38",
        "id": "chr7:g.73683272T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61732167",
        "rs": 61732167
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-73097602-T-C?dataset=gnomad_r2_1",
        "id": "7-73097602-T-C",
        "variant": "7:73097602 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-73683272-T-C?dataset=gnomad_r3",
        "id": "7-73683272-T-C",
        "variant": "7:73683272 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-73683272-T-C?dataset=gnomad_r4",
        "id": "7-73683272-T-C",
        "variant": "7:73683272 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 73683272,
          "referenceAllele": "T",
          "start": 73683271
        }
      ],
      "hgvs": [
        "NC_000007.14:g.73683272T>C",
        "CM000669.2:g.73683272T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 73097602,
          "referenceAllele": "T",
          "start": 73097601
        }
      ],
      "hgvs": [
        "NC_000007.13:g.73097602T>C",
        "CM000669.1:g.73097602T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 72735538,
          "referenceAllele": "T",
          "start": 72735537
        }
      ],
      "hgvs": [
        "NC_000007.12:g.72735538T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 182,
          "referenceAllele": "A",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016410",
      "geneNCBI_id": 84277,
      "geneSymbol": "DNAJC30",
      "hgvs": [
        "ENST00000395176.3:c.152A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378605.1:p.Tyr51Cys",
        "hgvsWellDefined": "ENSP00000378605.1:p.Tyr51Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753368",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395176.3:c.152A>G"
          },
          "RefSeq": {
            "hgvs": "NM_032317.3:c.152A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378605.1:p.Tyr51Cys"
          },
          "RefSeq": {
            "hgvs": "NP_115693.2:p.Tyr51Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 182,
          "referenceAllele": "A",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016410",
      "geneNCBI_id": 84277,
      "geneSymbol": "DNAJC30",
      "hgvs": [
        "ENST00000395176.2:c.152A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378605.1:p.Tyr51Cys",
        "hgvsWellDefined": "ENSP00000378605.1:p.Tyr51Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276562"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 248,
          "referenceAllele": "T",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016405",
      "geneNCBI_id": 114049,
      "geneSymbol": "BUD23",
      "hgvs": [
        "ENST00000464615.1:n.248T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139766594",
      "coordinates": [
        {
          "allele": "G",
          "end": 180,
          "referenceAllele": "A",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016410",
      "geneNCBI_id": 84277,
      "geneSymbol": "DNAJC30",
      "hgvs": [
        "NM_032317.2:c.152A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115693.2:p.Tyr51Cys",
        "hgvsWellDefined": "NP_115693.2:p.Tyr51Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038989"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139766594",
      "coordinates": [
        {
          "allele": "G",
          "end": 182,
          "referenceAllele": "A",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016410",
      "geneNCBI_id": 84277,
      "geneSymbol": "DNAJC30",
      "hgvs": [
        "NM_032317.3:c.152A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115693.2:p.Tyr51Cys",
        "hgvsWellDefined": "NP_115693.2:p.Tyr51Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699074",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395176.3:c.152A>G"
          },
          "RefSeq": {
            "hgvs": "NM_032317.3:c.152A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378605.1:p.Tyr51Cys"
          },
          "RefSeq": {
            "hgvs": "NP_115693.2:p.Tyr51Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}