{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10615033",
  "communityStandardTitle": [
    "NM_000939.4(POMC):c.*63C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=289041[alleleid]",
        "alleleId": 289041,
        "preferredName": "NM_000939.4(POMC):c.*63C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/335352",
        "RCV": [
          "RCV000272308",
          "RCV000329597",
          "RCV001660697"
        ],
        "variationId": 335352
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.25383887G>A?assembly=hg19",
        "id": "chr2:g.25383887G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.25161018G>A?assembly=hg38",
        "id": "chr2:g.25161018G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1042571",
        "rs": 1042571
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-25383887-G-A?dataset=gnomad_r2_1",
        "id": "2-25383887-G-A",
        "variant": "2:25383887 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-25161018-G-A?dataset=gnomad_r3",
        "id": "2-25161018-G-A",
        "variant": "2:25161018 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-25161018-G-A?dataset=gnomad_r4",
        "id": "2-25161018-G-A",
        "variant": "2:25161018 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 25161018,
          "referenceAllele": "G",
          "start": 25161017
        }
      ],
      "hgvs": [
        "NC_000002.12:g.25161018G>A",
        "CM000664.2:g.25161018G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 25383887,
          "referenceAllele": "G",
          "start": 25383886
        }
      ],
      "hgvs": [
        "NC_000002.11:g.25383887G>A",
        "CM000664.1:g.25383887G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 25237391,
          "referenceAllele": "G",
          "start": 25237390
        }
      ],
      "hgvs": [
        "NC_000002.10:g.25237391G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12673,
          "referenceAllele": "C",
          "start": 12672
        }
      ],
      "hgvs": [
        "NG_008997.1:g.12673C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001368"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 970,
          "referenceAllele": "C",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "ENST00000395826.7:c.*63C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379170.2:n.*63C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753445",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395826.7:c.*63C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000939.4:c.*63C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379170.2:n.*63C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000930.1:n.*63C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1041,
          "referenceAllele": "C",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "ENST00000264708.7:c.*63C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264708.3:n.*63C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1130,
          "referenceAllele": "C",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "ENST00000380794.5:c.*63C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370171.1:n.*63C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1323,
          "referenceAllele": "C",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "ENST00000405623.5:c.*63C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384092.1:n.*63C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280398"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1080,
          "referenceAllele": "C",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_000939.2:c.*63C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000930.1:n.*63C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1130,
          "referenceAllele": "C",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_001035256.1:c.*63C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001030333.1:n.*63C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009215"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1291,
          "referenceAllele": "C",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "XM_011532917.1:c.*63C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531219.1:n.*63C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1241,
          "referenceAllele": "C",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_000939.3:c.*63C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000930.1:n.*63C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1291,
          "referenceAllele": "C",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_001035256.2:c.*63C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001030333.1:n.*63C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1321,
          "referenceAllele": "C",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_001319204.1:c.*63C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306133.1:n.*63C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1271,
          "referenceAllele": "C",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_001319205.1:c.*63C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306134.1:n.*63C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 970,
          "referenceAllele": "C",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_000939.4:c.*63C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000930.1:n.*63C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662655",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395826.7:c.*63C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000939.4:c.*63C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379170.2:n.*63C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000930.1:n.*63C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1050,
          "referenceAllele": "C",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_001319204.2:c.*63C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306133.1:n.*63C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1000,
          "referenceAllele": "C",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_001319205.2:c.*63C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306134.1:n.*63C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1020,
          "referenceAllele": "C",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_001035256.3:c.*63C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001030333.1:n.*63C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711559"
    }
  ],
  "type": "nucleotide"
}