{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3638759",
  "communityStandardTitle": [
    "NM_001955.5(EDN1):c.536C>T (p.Ser179Leu)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-12296197-C-T",
        "id": "6-12296197-C-T",
        "variant": "6:12296197 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.12296197C>T?assembly=hg19",
        "id": "chr6:g.12296197C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.12295964C>T?assembly=hg38",
        "id": "chr6:g.12295964C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140345259",
        "rs": 140345259
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-12296197-C-T?dataset=gnomad_r2_1",
        "id": "6-12296197-C-T",
        "variant": "6:12296197 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-12295964-C-T?dataset=gnomad_r3",
        "id": "6-12295964-C-T",
        "variant": "6:12295964 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-12295964-C-T?dataset=gnomad_r4",
        "id": "6-12295964-C-T",
        "variant": "6:12295964 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 12295964,
          "referenceAllele": "C",
          "start": 12295963
        }
      ],
      "hgvs": [
        "NC_000006.12:g.12295964C>T",
        "CM000668.2:g.12295964C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 12296197,
          "referenceAllele": "C",
          "start": 12296196
        }
      ],
      "hgvs": [
        "NC_000006.11:g.12296197C>T",
        "CM000668.1:g.12296197C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 12404183,
          "referenceAllele": "C",
          "start": 12404182
        }
      ],
      "hgvs": [
        "NC_000006.10:g.12404183C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10669,
          "referenceAllele": "C",
          "start": 10668
        }
      ],
      "hgvs": [
        "NG_016196.1:g.10669C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003002"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 805,
          "referenceAllele": "C",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003176",
      "geneNCBI_id": 1906,
      "geneSymbol": "EDN1",
      "hgvs": [
        "ENST00000379375.6:c.536C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368683.5:p.Ser179Leu",
        "hgvsWellDefined": "ENSP00000368683.5:p.Ser179Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752218",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379375.6:c.536C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001955.5:c.536C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368683.5:p.Ser179Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001946.3:p.Ser179Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 803,
          "referenceAllele": "C",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003176",
      "geneNCBI_id": 1906,
      "geneSymbol": "EDN1",
      "hgvs": [
        "ENST00000379375.5:c.536C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368683.5:p.Ser179Leu",
        "hgvsWellDefined": "ENSP00000368683.5:p.Ser179Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 867,
          "referenceAllele": "C",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003176",
      "geneNCBI_id": 1906,
      "geneSymbol": "EDN1",
      "hgvs": [
        "NM_001168319.1:c.533C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161791.1:p.Ser178Leu",
        "hgvsWellDefined": "NP_001161791.1:p.Ser178Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015072"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072156646",
      "coordinates": [
        {
          "allele": "T",
          "end": 870,
          "referenceAllele": "C",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003176",
      "geneNCBI_id": 1906,
      "geneSymbol": "EDN1",
      "hgvs": [
        "NM_001955.4:c.536C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001946.3:p.Ser179Leu",
        "hgvsWellDefined": "NP_001946.3:p.Ser179Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003176",
      "geneNCBI_id": 1906,
      "geneSymbol": "EDN1",
      "hgvs": [
        "XM_011514330.1:c.536C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512632.1:p.Ser179Leu",
        "hgvsWellDefined": "XP_011512632.1:p.Ser179Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003176",
      "geneNCBI_id": 1906,
      "geneSymbol": "EDN1",
      "hgvs": [
        "XM_011514331.1:c.536C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512633.1:p.Ser179Leu",
        "hgvsWellDefined": "XP_011512633.1:p.Ser179Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "referenceAllele": "C",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003176",
      "geneNCBI_id": 1906,
      "geneSymbol": "EDN1",
      "hgvs": [
        "XM_011514332.1:c.533C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512634.1:p.Ser178Leu",
        "hgvsWellDefined": "XP_011512634.1:p.Ser178Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 626,
          "referenceAllele": "C",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003176",
      "geneNCBI_id": 1906,
      "geneSymbol": "EDN1",
      "hgvs": [
        "XM_011514330.2:c.536C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512632.1:p.Ser179Leu",
        "hgvsWellDefined": "XP_011512632.1:p.Ser179Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 788,
          "referenceAllele": "C",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003176",
      "geneNCBI_id": 1906,
      "geneSymbol": "EDN1",
      "hgvs": [
        "XM_011514331.3:c.536C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512633.1:p.Ser179Leu",
        "hgvsWellDefined": "XP_011512633.1:p.Ser179Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543275"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003176",
      "geneNCBI_id": 1906,
      "geneSymbol": "EDN1",
      "hgvs": [
        "XM_011514332.2:c.533C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512634.1:p.Ser178Leu",
        "hgvsWellDefined": "XP_011512634.1:p.Ser178Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543276"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003176",
      "geneNCBI_id": 1906,
      "geneSymbol": "EDN1",
      "hgvs": [
        "XM_017010331.1:c.536C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865820.1:p.Ser179Leu",
        "hgvsWellDefined": "XP_016865820.1:p.Ser179Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072156646",
      "coordinates": [
        {
          "allele": "T",
          "end": 805,
          "referenceAllele": "C",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003176",
      "geneNCBI_id": 1906,
      "geneSymbol": "EDN1",
      "hgvs": [
        "NM_001955.5:c.536C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001946.3:p.Ser179Leu",
        "hgvsWellDefined": "NP_001946.3:p.Ser179Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665269",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379375.6:c.536C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001955.5:c.536C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368683.5:p.Ser179Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001946.3:p.Ser179Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 802,
          "referenceAllele": "C",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003176",
      "geneNCBI_id": 1906,
      "geneSymbol": "EDN1",
      "hgvs": [
        "NM_001168319.2:c.533C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161791.1:p.Ser178Leu",
        "hgvsWellDefined": "NP_001161791.1:p.Ser178Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678576"
    }
  ],
  "type": "nucleotide"
}