{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA365668344",
  "communityStandardTitle": [
    "NM_004830.4(MED23):c.2427-1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1697501[alleleid]",
        "alleleId": 1697501,
        "preferredName": "NM_004830.4(MED23):c.2427-1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1704293",
        "RCV": [
          "RCV002281640"
        ],
        "variationId": 1704293
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.131919608C>T?assembly=hg19",
        "id": "chr6:g.131919608C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.131598468C>T?assembly=hg38",
        "id": "chr6:g.131598468C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2482570711",
        "rs": 2482570711
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 131598468,
          "referenceAllele": "C",
          "start": 131598467
        }
      ],
      "hgvs": [
        "NC_000006.12:g.131598468C>T",
        "CM000668.2:g.131598468C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 131919608,
          "referenceAllele": "C",
          "start": 131919607
        }
      ],
      "hgvs": [
        "NC_000006.11:g.131919608C>T",
        "CM000668.1:g.131919608C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 131961301,
          "referenceAllele": "C",
          "start": 131961300
        }
      ],
      "hgvs": [
        "NC_000006.10:g.131961301C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34756,
          "referenceAllele": "G",
          "start": 34755
        }
      ],
      "hgvs": [
        "NG_031860.1:g.34756G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34756,
          "referenceAllele": "G",
          "start": 34755
        }
      ],
      "hgvs": [
        "NG_031860.2:g.34756G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673851"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2619,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "ENST00000368068.8:c.2427-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357047.3:n.2427-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368068.8:c.2427-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004830.4:c.2427-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357047.3:n.2427-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_004821.2:n.2427-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2600,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2600,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "ENST00000354577.8:c.2445-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346588.4:n.2445-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2594,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2594,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "ENST00000368053.8:c.2445-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357032.4:n.2445-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2461,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2461,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "ENST00000368058.5:c.2445-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357037.1:n.2445-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266742"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2606,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2606,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "ENST00000368060.7:c.2427-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357039.3:n.2427-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2606,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2606,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "ENST00000368068.7:c.2427-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357047.3:n.2427-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2616,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2616,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_001270521.1:c.2427-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257450.1:n.2427-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020343"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2616,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2616,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_001270522.1:c.2427-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257451.1:n.2427-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2616,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2616,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_004830.3:c.2427-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004821.2:n.2427-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029975"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2634,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2634,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_015979.3:c.2445-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057063.2:n.2445-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2630,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2630,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "XM_005267223.1:c.2445-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267280.1:n.2445-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2516,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2516,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "XM_011536257.1:c.2331-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534559.1:n.2331-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2626,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2626,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "XM_005267223.3:c.2445-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267280.1:n.2445-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2512,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2512,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "XM_011536257.3:c.2331-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534559.1:n.2331-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1574,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1574,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "XM_017011501.1:c.1494-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866990.1:n.1494-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565334"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2619,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_004830.4:c.2427-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004821.2:n.2427-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368068.8:c.2427-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004830.4:c.2427-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357047.3:n.2427-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_004821.2:n.2427-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2619,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_001270521.2:c.2427-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257450.1:n.2427-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2619,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_001270522.2:c.2427-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257451.1:n.2427-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2637,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2637,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_001376517.1:c.2445-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001363446.1:n.2445-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2456,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2456,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_001376518.1:c.2373-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001363447.1:n.2373-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694517"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2619,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_001376519.1:c.2427-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001363448.1:n.2427-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2478,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2478,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_001376520.1:c.2286-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001363449.1:n.2286-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694519"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2619,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_001376521.1:c.2427-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001363450.1:n.2427-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694520"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2619,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_001376522.1:c.2427-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001363451.1:n.2427-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694521"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2364,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2364,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_001376523.1:c.2172-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001363452.1:n.2172-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694522"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2413,
          "endIntronDirection": "+",
          "endIntronOffset": 1570,
          "referenceAllele": "G",
          "start": 2413,
          "startIntronDirection": "+",
          "startIntronOffset": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_001376524.1:c.2220+1570G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001363453.1:n.2220+1570G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694523"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2637,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2637,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_015979.4:c.2445-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057063.2:n.2445-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697639"
    }
  ],
  "type": "nucleotide"
}