{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9969748",
  "communityStandardTitle": [
    "NM_025219.3(DNAJC5):c.444C>T (p.Phe148=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=336304[alleleid]",
        "alleleId": 336304,
        "preferredName": "NM_025219.3(DNAJC5):c.444C>T (p.Phe148=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/339358",
        "RCV": [
          "RCV000290863",
          "RCV001088544",
          "RCV001139077",
          "RCV000726834"
        ],
        "variationId": 339358
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-62562326-C-T",
        "id": "20-62562326-C-T",
        "variant": "20:62562326 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.62562326C>T?assembly=hg19",
        "id": "chr20:g.62562326C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.63930973C>T?assembly=hg38",
        "id": "chr20:g.63930973C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/772254851",
        "rs": 772254851
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-62562326-C-T?dataset=gnomad_r2_1",
        "id": "20-62562326-C-T",
        "variant": "20:62562326 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-63930973-C-T?dataset=gnomad_r3",
        "id": "20-63930973-C-T",
        "variant": "20:63930973 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-63930973-C-T?dataset=gnomad_r4",
        "id": "20-63930973-C-T",
        "variant": "20:63930973 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 63930973,
          "referenceAllele": "C",
          "start": 63930972
        }
      ],
      "hgvs": [
        "NC_000020.11:g.63930973C>T",
        "CM000682.2:g.63930973C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 62562326,
          "referenceAllele": "C",
          "start": 62562325
        }
      ],
      "hgvs": [
        "NC_000020.10:g.62562326C>T",
        "CM000682.1:g.62562326C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 62032770,
          "referenceAllele": "C",
          "start": 62032769
        }
      ],
      "hgvs": [
        "NC_000020.9:g.62032770C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 40872,
          "referenceAllele": "C",
          "start": 40871
        }
      ],
      "hgvs": [
        "NG_029805.1:g.40872C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 40872,
          "referenceAllele": "C",
          "start": 40871
        }
      ],
      "hgvs": [
        "NG_029805.2:g.40872C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673817"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1334,
          "referenceAllele": "C",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016235",
      "geneNCBI_id": 80331,
      "geneSymbol": "DNAJC5",
      "hgvs": [
        "ENST00000703637.1:c.444C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515413.1:p.Phe148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 653,
          "referenceAllele": "C",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016235",
      "geneNCBI_id": 80331,
      "geneSymbol": "DNAJC5",
      "hgvs": [
        "ENST00000360864.9:c.444C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354111.4:p.Phe148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749372",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360864.9:c.444C>T"
          },
          "RefSeq": {
            "hgvs": "NM_025219.3:c.444C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354111.4:p.Phe148="
          },
          "RefSeq": {
            "hgvs": "NP_079495.1:p.Phe148="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 597,
          "referenceAllele": "C",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016235",
      "geneNCBI_id": 80331,
      "geneSymbol": "DNAJC5",
      "hgvs": [
        "ENST00000360864.8:c.444C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354111.4:p.Phe148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 597,
          "referenceAllele": "C",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016235",
      "geneNCBI_id": 80331,
      "geneSymbol": "DNAJC5",
      "hgvs": [
        "ENST00000470551.1:c.444C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434744.1:p.Phe148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS312957"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830031798",
      "coordinates": [
        {
          "allele": "T",
          "end": 677,
          "referenceAllele": "C",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016235",
      "geneNCBI_id": 80331,
      "geneSymbol": "DNAJC5",
      "hgvs": [
        "NM_025219.2:c.444C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079495.1:p.Phe148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1072,
          "referenceAllele": "C",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016235",
      "geneNCBI_id": 80331,
      "geneSymbol": "DNAJC5",
      "hgvs": [
        "XM_011529048.1:c.444C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527350.1:p.Phe148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096118"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1334,
          "referenceAllele": "C",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016235",
      "geneNCBI_id": 80331,
      "geneSymbol": "DNAJC5",
      "hgvs": [
        "XM_011529049.1:c.444C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527351.1:p.Phe148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 471,
          "referenceAllele": "C",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016235",
      "geneNCBI_id": 80331,
      "geneSymbol": "DNAJC5",
      "hgvs": [
        "XM_011529050.1:c.444C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527352.1:p.Phe148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096120"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016235",
      "geneNCBI_id": 80331,
      "geneSymbol": "DNAJC5",
      "hgvs": [
        "XR_936629.1:n.1076C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1334,
          "referenceAllele": "C",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016235",
      "geneNCBI_id": 80331,
      "geneSymbol": "DNAJC5",
      "hgvs": [
        "XR_936630.1:n.1334C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1085,
          "referenceAllele": "C",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016235",
      "geneNCBI_id": 80331,
      "geneSymbol": "DNAJC5",
      "hgvs": [
        "XM_011529048.2:c.444C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527350.1:p.Phe148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1089,
          "referenceAllele": "C",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016235",
      "geneNCBI_id": 80331,
      "geneSymbol": "DNAJC5",
      "hgvs": [
        "XR_936629.2:n.1089C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611369"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830031798",
      "coordinates": [
        {
          "allele": "T",
          "end": 653,
          "referenceAllele": "C",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016235",
      "geneNCBI_id": 80331,
      "geneSymbol": "DNAJC5",
      "hgvs": [
        "NM_025219.3:c.444C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079495.1:p.Phe148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670939",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360864.9:c.444C>T"
          },
          "RefSeq": {
            "hgvs": "NM_025219.3:c.444C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354111.4:p.Phe148="
          },
          "RefSeq": {
            "hgvs": "NP_079495.1:p.Phe148="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}