{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA126749",
  "communityStandardTitle": [
    "NM_207034.3(EDN3):c.670G>A (p.Ala224Thr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4680203"
      },
      {
        "active": false,
        "id": "COSM4680204"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31686[alleleid]",
        "alleleId": 31686,
        "preferredName": "NM_207034.3(EDN3):c.670G>A (p.Ala224Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16647",
        "RCV": [
          "RCV000214032",
          "RCV000907433",
          "RCV000990324",
          "RCV000018127"
        ],
        "variationId": 16647
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-57899467-G-A",
        "id": "20-57899467-G-A",
        "variant": "20:57899467 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.57899467G>A?assembly=hg19",
        "id": "chr20:g.57899467G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.59324412G>A?assembly=hg38",
        "id": "chr20:g.59324412G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11570351",
        "rs": 11570351
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-57899467-G-A?dataset=gnomad_r2_1",
        "id": "20-57899467-G-A",
        "variant": "20:57899467 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-59324412-G-A?dataset=gnomad_r3",
        "id": "20-59324412-G-A",
        "variant": "20:59324412 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-59324412-G-A?dataset=gnomad_r4",
        "id": "20-59324412-G-A",
        "variant": "20:59324412 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 59324412,
          "referenceAllele": "G",
          "start": 59324411
        }
      ],
      "hgvs": [
        "NC_000020.11:g.59324412G>A",
        "CM000682.2:g.59324412G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 57899467,
          "referenceAllele": "G",
          "start": 57899466
        }
      ],
      "hgvs": [
        "NC_000020.10:g.57899467G>A",
        "CM000682.1:g.57899467G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 57332862,
          "referenceAllele": "G",
          "start": 57332861
        }
      ],
      "hgvs": [
        "NC_000020.9:g.57332862G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28969,
          "referenceAllele": "G",
          "start": 28968
        }
      ],
      "hgvs": [
        "NG_008050.1:g.28969G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000806"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "ENST00000337938.7:c.670G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337128.2:p.Ala224Thr",
        "hgvsWellDefined": "ENSP00000337128.2:p.Ala224Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747699",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337938.7:c.670G>A"
          },
          "RefSeq": {
            "hgvs": "NM_207034.3:c.670G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337128.2:p.Ala224Thr"
          },
          "RefSeq": {
            "hgvs": "NP_996917.1:p.Ala224Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 994,
          "referenceAllele": "G",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "ENST00000644821.1:c.*131G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493472.1:n.*131G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1311,
          "referenceAllele": "G",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "ENST00000671744.1:n.1311G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 572,
          "referenceAllele": "G",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "ENST00000672969.1:c.572G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1075,
          "referenceAllele": "G",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "ENST00000311585.11:c.*45G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311854.7:n.*45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1056,
          "referenceAllele": "G",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "ENST00000337938.6:c.670G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337128.2:p.Ala224Thr",
        "hgvsWellDefined": "ENSP00000337128.2:p.Ala224Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 819,
          "referenceAllele": "G",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "ENST00000371025.7:c.*45G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360064.3:n.*45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1039,
          "referenceAllele": "G",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "ENST00000371028.6:c.670G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360067.2:p.Ala224Thr",
        "hgvsWellDefined": "ENSP00000360067.2:p.Ala224Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 738,
          "referenceAllele": "G",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "ENST00000395654.3:c.628G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379015.3:p.Ala210Thr",
        "hgvsWellDefined": "ENSP00000379015.3:p.Ala210Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276816"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "G",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "NM_001302455.1:c.*77G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289384.1:n.*77G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025284"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1010,
          "referenceAllele": "G",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "NM_001302456.1:c.*45G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289385.1:n.*45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025285"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1091,
          "referenceAllele": "G",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "NM_207032.2:c.*45G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_996915.1:n.*45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045376"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830525188",
      "coordinates": [
        {
          "allele": "A",
          "end": 1014,
          "referenceAllele": "G",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "NM_207033.2:c.628G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_996916.1:p.Ala210Thr",
        "hgvsWellDefined": "NP_996916.1:p.Ala210Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111048",
      "coordinates": [
        {
          "allele": "A",
          "end": 1056,
          "referenceAllele": "G",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "NM_207034.2:c.670G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_996917.1:p.Ala224Thr",
        "hgvsWellDefined": "NP_996917.1:p.Ala224Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1098,
          "referenceAllele": "G",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XM_005260312.3:c.709G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260369.1:p.Ala237Thr",
        "hgvsWellDefined": "XP_005260369.1:p.Ala237Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062745"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1073,
          "referenceAllele": "G",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XM_005260313.3:c.*45G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260370.1:n.*45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1124,
          "referenceAllele": "G",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XM_006723734.2:c.*108G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723797.1:n.*108G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075181"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1077,
          "referenceAllele": "G",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XM_011528655.1:c.688G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526957.1:p.Ala230Thr",
        "hgvsWellDefined": "XP_011526957.1:p.Ala230Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1152,
          "referenceAllele": "G",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XR_936513.1:n.1152G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1105,
          "referenceAllele": "G",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XM_005260312.4:c.709G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260369.1:p.Ala237Thr",
        "hgvsWellDefined": "XP_005260369.1:p.Ala237Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535156"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1081,
          "referenceAllele": "G",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XM_005260313.5:c.*45G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260370.1:n.*45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1132,
          "referenceAllele": "G",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XM_006723734.3:c.*108G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723797.1:n.*108G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540816"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1085,
          "referenceAllele": "G",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XM_011528655.2:c.688G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526957.1:p.Ala230Thr",
        "hgvsWellDefined": "XP_011526957.1:p.Ala230Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549203"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1116,
          "referenceAllele": "G",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XM_024451847.1:c.*113G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307615.1:n.*113G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585354"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1121,
          "referenceAllele": "G",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XM_024451848.1:c.*117G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307616.1:n.*117G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1147,
          "referenceAllele": "G",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XR_002958461.1:n.1147G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604586"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "referenceAllele": "G",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XR_002958462.1:n.1175G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604587"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1160,
          "referenceAllele": "G",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XR_936513.2:n.1160G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111048",
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "NM_207034.3:c.670G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_996917.1:p.Ala224Thr",
        "hgvsWellDefined": "NP_996917.1:p.Ala224Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673277",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337938.7:c.670G>A"
          },
          "RefSeq": {
            "hgvs": "NM_207034.3:c.670G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337128.2:p.Ala224Thr"
          },
          "RefSeq": {
            "hgvs": "NP_996917.1:p.Ala224Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 876,
          "referenceAllele": "G",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "NM_001302455.2:c.*77G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289384.1:n.*77G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 826,
          "referenceAllele": "G",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "NM_001302456.2:c.*45G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289385.1:n.*45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683460"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 907,
          "referenceAllele": "G",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "NM_207032.3:c.*45G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_996915.1:n.*45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701720"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830525188",
      "coordinates": [
        {
          "allele": "A",
          "end": 830,
          "referenceAllele": "G",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "NM_207033.3:c.628G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_996916.1:p.Ala210Thr",
        "hgvsWellDefined": "NP_996916.1:p.Ala210Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701721"
    }
  ],
  "type": "nucleotide"
}