{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1502049588",
  "communityStandardTitle": [
    "NM_001957.4(EDNRA):c.548+6249C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10003447",
        "rs": 10003447
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 147526227,
          "referenceAllele": "C",
          "start": 147526226
        }
      ],
      "hgvs": [
        "NC_000004.12:g.147526227C=",
        "CM000666.2:g.147526227C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 148447379,
          "referenceAllele": "C",
          "start": 148447378
        }
      ],
      "hgvs": [
        "NC_000004.11:g.148447379C=",
        "CM000666.1:g.148447379C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 148666829,
          "referenceAllele": "C",
          "start": 148666828
        }
      ],
      "hgvs": [
        "NC_000004.10:g.148666829C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50311,
          "referenceAllele": "C",
          "start": 50310
        }
      ],
      "hgvs": [
        "NG_013343.1:g.50311C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002795"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "endIntronDirection": "+",
          "endIntronOffset": 6249,
          "referenceAllele": "C",
          "start": 1078,
          "startIntronDirection": "+",
          "startIntronOffset": 6248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003179",
      "geneNCBI_id": 1909,
      "geneSymbol": "EDNRA",
      "hgvs": [
        "ENST00000324300.10:c.548+6249C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315011.5:n.548+6249C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746621"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1063,
          "endIntronDirection": "+",
          "endIntronOffset": 6249,
          "referenceAllele": "C",
          "start": 1063,
          "startIntronDirection": "+",
          "startIntronOffset": 6248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003179",
      "geneNCBI_id": 1909,
      "geneSymbol": "EDNRA",
      "hgvs": [
        "ENST00000648866.1:c.-128+6249C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496976.1:n.-128+6249C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770221"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 898,
          "endIntronDirection": "+",
          "endIntronOffset": 6249,
          "referenceAllele": "C",
          "start": 898,
          "startIntronDirection": "+",
          "startIntronOffset": 6248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003179",
      "geneNCBI_id": 1909,
      "geneSymbol": "EDNRA",
      "hgvs": [
        "ENST00000651419.1:c.548+6249C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498969.1:n.548+6249C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771656",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651419.1:c.548+6249C="
          },
          "RefSeq": {
            "hgvs": "NM_001957.4:c.548+6249C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498969.1:n.548+6249C="
          },
          "RefSeq": {
            "hgvs": "NP_001948.1:n.548+6249C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1063,
          "endIntronDirection": "+",
          "endIntronOffset": 6249,
          "referenceAllele": "C",
          "start": 1063,
          "startIntronDirection": "+",
          "startIntronOffset": 6248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003179",
      "geneNCBI_id": 1909,
      "geneSymbol": "EDNRA",
      "hgvs": [
        "ENST00000324300.9:c.548+6249C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315011.5:n.548+6249C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 950,
          "endIntronDirection": "-",
          "endIntronOffset": 9649,
          "referenceAllele": "C",
          "start": 950,
          "startIntronDirection": "-",
          "startIntronOffset": 9650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003179",
      "geneNCBI_id": 1909,
      "geneSymbol": "EDNRA",
      "hgvs": [
        "ENST00000358556.8:c.421-9650C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351359.4:n.421-9650C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264497"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 420,
          "endIntronDirection": "-",
          "endIntronOffset": 9649,
          "referenceAllele": "C",
          "start": 420,
          "startIntronDirection": "-",
          "startIntronOffset": 9650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003179",
      "geneNCBI_id": 1909,
      "geneSymbol": "EDNRA",
      "hgvs": [
        "ENST00000506066.1:c.421-9650C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425281.1:n.421-9650C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337690"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 548,
          "endIntronDirection": "+",
          "endIntronOffset": 6249,
          "referenceAllele": "C",
          "start": 548,
          "startIntronDirection": "+",
          "startIntronOffset": 6248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003179",
      "geneNCBI_id": 1909,
      "geneSymbol": "EDNRA",
      "hgvs": [
        "ENST00000510697.5:c.548+6249C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427259.1:n.548+6249C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 573,
          "endIntronDirection": "+",
          "endIntronOffset": 6249,
          "referenceAllele": "C",
          "start": 573,
          "startIntronDirection": "+",
          "startIntronOffset": 6248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003179",
      "geneNCBI_id": 1909,
      "geneSymbol": "EDNRA",
      "hgvs": [
        "ENST00000511804.5:c.-128+6249C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425354.1:n.-128+6249C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 268,
          "endIntronDirection": "-",
          "endIntronOffset": 6278,
          "referenceAllele": "C",
          "start": 268,
          "startIntronDirection": "-",
          "startIntronOffset": 6279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003179",
      "geneNCBI_id": 1909,
      "geneSymbol": "EDNRA",
      "hgvs": [
        "ENST00000514245.1:n.269-6279C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343782"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 950,
          "endIntronDirection": "-",
          "endIntronOffset": 9649,
          "referenceAllele": "C",
          "start": 950,
          "startIntronDirection": "-",
          "startIntronOffset": 9650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003179",
      "geneNCBI_id": 1909,
      "geneSymbol": "EDNRA",
      "hgvs": [
        "NM_001166055.1:c.421-9650C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001159527.1:n.421-9650C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014781"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 588,
          "endIntronDirection": "+",
          "endIntronOffset": 6249,
          "referenceAllele": "C",
          "start": 588,
          "startIntronDirection": "+",
          "startIntronOffset": 6248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003179",
      "geneNCBI_id": 1909,
      "geneSymbol": "EDNRA",
      "hgvs": [
        "NM_001256283.1:c.-128+6249C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243212.1:n.-128+6249C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "endIntronDirection": "+",
          "endIntronOffset": 6249,
          "referenceAllele": "C",
          "start": 1078,
          "startIntronDirection": "+",
          "startIntronOffset": 6248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003179",
      "geneNCBI_id": 1909,
      "geneSymbol": "EDNRA",
      "hgvs": [
        "NM_001957.3:c.548+6249C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001948.1:n.548+6249C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027283"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "endIntronDirection": "+",
          "endIntronOffset": 6249,
          "referenceAllele": "C",
          "start": 1078,
          "startIntronDirection": "+",
          "startIntronOffset": 6248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003179",
      "geneNCBI_id": 1909,
      "geneSymbol": "EDNRA",
      "hgvs": [
        "NR_045958.1:n.1078+6249C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "endIntronDirection": "-",
          "endIntronOffset": 269,
          "referenceAllele": "C",
          "start": 1078,
          "startIntronDirection": "-",
          "startIntronOffset": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003179",
      "geneNCBI_id": 1909,
      "geneSymbol": "EDNRA",
      "hgvs": [
        "NM_001354797.1:c.549-270C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341726.1:n.549-270C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522686"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 588,
          "endIntronDirection": "+",
          "endIntronOffset": 6249,
          "referenceAllele": "C",
          "start": 588,
          "startIntronDirection": "+",
          "startIntronOffset": 6248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003179",
      "geneNCBI_id": 1909,
      "geneSymbol": "EDNRA",
      "hgvs": [
        "NR_148963.1:n.588+6249C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531408"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 588,
          "endIntronDirection": "+",
          "endIntronOffset": 6249,
          "referenceAllele": "C",
          "start": 588,
          "startIntronDirection": "+",
          "startIntronOffset": 6248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003179",
      "geneNCBI_id": 1909,
      "geneSymbol": "EDNRA",
      "hgvs": [
        "NR_148964.1:n.588+6249C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531409"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 898,
          "endIntronDirection": "+",
          "endIntronOffset": 6249,
          "referenceAllele": "C",
          "start": 898,
          "startIntronDirection": "+",
          "startIntronOffset": 6248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003179",
      "geneNCBI_id": 1909,
      "geneSymbol": "EDNRA",
      "hgvs": [
        "NM_001957.4:c.548+6249C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001948.1:n.548+6249C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665271",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651419.1:c.548+6249C="
          },
          "RefSeq": {
            "hgvs": "NM_001957.4:c.548+6249C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498969.1:n.548+6249C="
          },
          "RefSeq": {
            "hgvs": "NP_001948.1:n.548+6249C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 898,
          "endIntronDirection": "-",
          "endIntronOffset": 269,
          "referenceAllele": "C",
          "start": 898,
          "startIntronDirection": "-",
          "startIntronOffset": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003179",
      "geneNCBI_id": 1909,
      "geneSymbol": "EDNRA",
      "hgvs": [
        "NM_001354797.2:c.549-270C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341726.1:n.549-270C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690319"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 898,
          "endIntronDirection": "+",
          "endIntronOffset": 6249,
          "referenceAllele": "C",
          "start": 898,
          "startIntronDirection": "+",
          "startIntronOffset": 6248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003179",
      "geneNCBI_id": 1909,
      "geneSymbol": "EDNRA",
      "hgvs": [
        "NR_045958.2:n.898+6249C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702428"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 408,
          "endIntronDirection": "+",
          "endIntronOffset": 6249,
          "referenceAllele": "C",
          "start": 408,
          "startIntronDirection": "+",
          "startIntronOffset": 6248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003179",
      "geneNCBI_id": 1909,
      "geneSymbol": "EDNRA",
      "hgvs": [
        "NR_148963.2:n.408+6249C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704896"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 408,
          "endIntronDirection": "+",
          "endIntronOffset": 6249,
          "referenceAllele": "C",
          "start": 408,
          "startIntronDirection": "+",
          "startIntronOffset": 6248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003179",
      "geneNCBI_id": 1909,
      "geneSymbol": "EDNRA",
      "hgvs": [
        "NR_148964.2:n.408+6249C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 770,
          "endIntronDirection": "-",
          "endIntronOffset": 9649,
          "referenceAllele": "C",
          "start": 770,
          "startIntronDirection": "-",
          "startIntronOffset": 9650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003179",
      "geneNCBI_id": 1909,
      "geneSymbol": "EDNRA",
      "hgvs": [
        "NM_001166055.2:c.421-9650C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001159527.1:n.421-9650C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713161"
    }
  ],
  "type": "nucleotide"
}