{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6833932",
  "communityStandardTitle": [
    "NM_002560.3(P2RX4):c.403G>A (p.Gly135Ser)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-121659945-G-A",
        "id": "12-121659945-G-A",
        "variant": "12:121659945 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.121659945G>A?assembly=hg19",
        "id": "chr12:g.121659945G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.121222142G>A?assembly=hg38",
        "id": "chr12:g.121222142G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/765866317",
        "rs": 765866317
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-121659945-G-A?dataset=gnomad_r2_1",
        "id": "12-121659945-G-A",
        "variant": "12:121659945 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-121222142-G-A?dataset=gnomad_r3",
        "id": "12-121222142-G-A",
        "variant": "12:121222142 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-121222142-G-A?dataset=gnomad_r4",
        "id": "12-121222142-G-A",
        "variant": "12:121222142 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 121222142,
          "referenceAllele": "G",
          "start": 121222141
        }
      ],
      "hgvs": [
        "NC_000012.12:g.121222142G>A",
        "CM000674.2:g.121222142G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 121659945,
          "referenceAllele": "G",
          "start": 121659944
        }
      ],
      "hgvs": [
        "NC_000012.11:g.121659945G>A",
        "CM000674.1:g.121659945G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 120144328,
          "referenceAllele": "G",
          "start": 120144327
        }
      ],
      "hgvs": [
        "NC_000012.10:g.120144328G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "ENST00000337233.9:c.403G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000336607.4:p.Gly135Ser",
        "hgvsWellDefined": "ENSP00000336607.4:p.Gly135Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747640",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337233.9:c.403G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002560.3:c.403G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000336607.4:p.Gly135Ser"
          },
          "RefSeq": {
            "hgvs": "NP_002551.2:p.Gly135Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4537,
          "referenceAllele": "G",
          "start": 4536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "ENST00000314442.7:n.4537G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS256959"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 711,
          "referenceAllele": "G",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "ENST00000337233.8:c.403G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000336607.4:p.Gly135Ser",
        "hgvsWellDefined": "ENSP00000336607.4:p.Gly135Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260441"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 551,
          "referenceAllele": "G",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "ENST00000359949.11:c.451G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353032.7:p.Gly151Ser",
        "hgvsWellDefined": "ENSP00000353032.7:p.Gly151Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "ENST00000499638.6:n.439G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 333,
          "referenceAllele": "G",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "ENST00000538417.2:c.333G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 6390,
          "referenceAllele": "G",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 6391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "ENST00000538701.5:c.135-6391G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444033.1:n.135-6391G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361457"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "ENST00000540930.5:n.439G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362663"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 249,
          "referenceAllele": "G",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "ENST00000541187.5:n.249G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "referenceAllele": "G",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "ENST00000542067.5:c.403G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438329.1:p.Gly135Ser",
        "hgvsWellDefined": "ENSP00000438329.1:p.Gly135Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 707,
          "referenceAllele": "G",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "ENST00000543171.5:c.403G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438131.2:p.Gly135Ser",
        "hgvsWellDefined": "ENSP00000438131.2:p.Gly135Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "ENST00000543318.5:c.403G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444274.1:p.Gly135Ser",
        "hgvsWellDefined": "ENSP00000444274.1:p.Gly135Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363943"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 451,
          "referenceAllele": "G",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "ENST00000543430.5:n.451G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 291,
          "referenceAllele": "G",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "ENST00000543984.5:c.*96G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439386.1:n.*96G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 755,
          "referenceAllele": "G",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "NM_001256796.1:c.451G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243725.1:p.Gly151Ser",
        "hgvsWellDefined": "NP_001243725.1:p.Gly151Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 707,
          "referenceAllele": "G",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "NM_001261397.1:c.403G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248326.1:p.Gly135Ser",
        "hgvsWellDefined": "NP_001248326.1:p.Gly135Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019944"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 707,
          "referenceAllele": "G",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "NM_001261398.1:c.403G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248327.1:p.Gly135Ser",
        "hgvsWellDefined": "NP_001248327.1:p.Gly135Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019945"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079604054",
      "coordinates": [
        {
          "allele": "A",
          "end": 707,
          "referenceAllele": "G",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "NM_002560.2:c.403G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002551.2:p.Gly135Ser",
        "hgvsWellDefined": "NP_002551.2:p.Gly135Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 707,
          "referenceAllele": "G",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "NR_046372.1:n.707G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 559,
          "referenceAllele": "G",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "NR_046373.1:n.559G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051639"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 189,
          "endIntronDirection": "-",
          "endIntronOffset": 6390,
          "referenceAllele": "G",
          "start": 189,
          "startIntronDirection": "-",
          "startIntronOffset": 6391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "XM_011538416.1:c.135-6391G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536718.1:n.135-6391G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 517,
          "referenceAllele": "G",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "XM_011538417.1:c.451G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536719.1:p.Gly151Ser",
        "hgvsWellDefined": "XP_011536719.1:p.Gly151Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 511,
          "referenceAllele": "G",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "XR_944559.1:n.511G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 191,
          "endIntronDirection": "-",
          "endIntronOffset": 6390,
          "referenceAllele": "G",
          "start": 191,
          "startIntronDirection": "-",
          "startIntronOffset": 6391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "XM_011538416.2:c.135-6391G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536718.1:n.135-6391G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553281"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "XR_001748726.2:n.457G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 520,
          "referenceAllele": "G",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "XR_001748727.1:n.520G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596686"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 520,
          "referenceAllele": "G",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "XR_001748728.1:n.520G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "XR_001748729.2:n.457G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 510,
          "referenceAllele": "G",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "XR_944559.2:n.510G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS613789"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 487,
          "referenceAllele": "G",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "NM_001256796.2:c.451G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243725.1:p.Gly151Ser",
        "hgvsWellDefined": "NP_001243725.1:p.Gly151Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680655"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "NM_001261397.2:c.403G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248326.1:p.Gly135Ser",
        "hgvsWellDefined": "NP_001248326.1:p.Gly135Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "NM_001261398.2:c.403G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248327.1:p.Gly135Ser",
        "hgvsWellDefined": "NP_001248327.1:p.Gly135Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680876"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079604054",
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "NM_002560.3:c.403G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002551.2:p.Gly135Ser",
        "hgvsWellDefined": "NP_002551.2:p.Gly135Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695574",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337233.9:c.403G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002560.3:c.403G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000336607.4:p.Gly135Ser"
          },
          "RefSeq": {
            "hgvs": "NP_002551.2:p.Gly135Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "NR_046372.2:n.439G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702479"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 291,
          "referenceAllele": "G",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008535",
      "geneNCBI_id": 5025,
      "geneSymbol": "P2RX4",
      "hgvs": [
        "NR_046373.2:n.291G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702480"
    }
  ],
  "type": "nucleotide"
}