{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1144023",
  "communityStandardTitle": [
    "NM_000298.6(PKLR):c.1379T>C (p.Val460Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227202[alleleid]",
        "alleleId": 227202,
        "preferredName": "NM_000298.6(PKLR):c.1379T>C (p.Val460Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225440",
        "RCV": [
          "RCV000490506",
          "RCV001507460",
          "RCV002478762"
        ],
        "variationId": 225440
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-155263025-A-G",
        "id": "1-155263025-A-G",
        "variant": "1:155263025 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.155263025A>G?assembly=hg19",
        "id": "chr1:g.155263025A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.155293234A>G?assembly=hg38",
        "id": "chr1:g.155293234A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/149946271",
        "rs": 149946271
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-155263025-A-G?dataset=gnomad_r2_1",
        "id": "1-155263025-A-G",
        "variant": "1:155263025 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-155293234-A-G?dataset=gnomad_r3",
        "id": "1-155293234-A-G",
        "variant": "1:155293234 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-155293234-A-G?dataset=gnomad_r4",
        "id": "1-155293234-A-G",
        "variant": "1:155293234 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 155293234,
          "referenceAllele": "A",
          "start": 155293233
        }
      ],
      "hgvs": [
        "NC_000001.11:g.155293234A>G",
        "CM000663.2:g.155293234A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 155263025,
          "referenceAllele": "A",
          "start": 155263024
        }
      ],
      "hgvs": [
        "NC_000001.10:g.155263025A>G",
        "CM000663.1:g.155263025A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 153529649,
          "referenceAllele": "A",
          "start": 153529648
        }
      ],
      "hgvs": [
        "NC_000001.9:g.153529649A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13201,
          "referenceAllele": "T",
          "start": 13200
        }
      ],
      "hgvs": [
        "NG_011677.1:g.13201T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001893"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1422,
          "referenceAllele": "T",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "ENST00000342741.6:c.1379T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339933.4:p.Val460Ala",
        "hgvsWellDefined": "ENSP00000339933.4:p.Val460Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748088",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342741.6:c.1379T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000298.6:c.1379T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339933.4:p.Val460Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000289.1:p.Val460Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1418,
          "referenceAllele": "T",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "ENST00000342741.4:c.1379T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339933.4:p.Val460Ala",
        "hgvsWellDefined": "ENSP00000339933.4:p.Val460Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261622"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1400,
          "referenceAllele": "T",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "ENST00000392414.7:c.1286T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376214.3:p.Val429Ala",
        "hgvsWellDefined": "ENSP00000376214.3:p.Val429Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275080"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645466667",
      "coordinates": [
        {
          "allele": "C",
          "end": 1418,
          "referenceAllele": "T",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "NM_000298.5:c.1379T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000289.1:p.Val460Ala",
        "hgvsWellDefined": "NP_000289.1:p.Val460Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830405477",
      "coordinates": [
        {
          "allele": "C",
          "end": 1400,
          "referenceAllele": "T",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "NM_181871.3:c.1286T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_870986.1:p.Val429Ala",
        "hgvsWellDefined": "NP_870986.1:p.Val429Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1556,
          "referenceAllele": "T",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "XM_005245266.3:c.1538T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245323.1:p.Val513Ala",
        "hgvsWellDefined": "XP_005245323.1:p.Val513Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1308,
          "referenceAllele": "T",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "XM_006711386.2:c.1187T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711449.1:p.Val396Ala",
        "hgvsWellDefined": "XP_006711449.1:p.Val396Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069106"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1351,
          "referenceAllele": "T",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "XM_011509640.1:c.1187T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507942.1:p.Val396Ala",
        "hgvsWellDefined": "XP_011507942.1:p.Val396Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645466667",
      "coordinates": [
        {
          "allele": "C",
          "end": 1422,
          "referenceAllele": "T",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "NM_000298.6:c.1379T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000289.1:p.Val460Ala",
        "hgvsWellDefined": "NP_000289.1:p.Val460Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510777",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342741.6:c.1379T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000298.6:c.1379T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339933.4:p.Val460Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000289.1:p.Val460Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1335,
          "referenceAllele": "T",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "XM_006711386.4:c.1187T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711449.1:p.Val396Ala",
        "hgvsWellDefined": "XP_006711449.1:p.Val396Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537985"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1364,
          "referenceAllele": "T",
          "start": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "XM_011509640.3:c.1187T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507942.1:p.Val396Ala",
        "hgvsWellDefined": "XP_011507942.1:p.Val396Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830405477",
      "coordinates": [
        {
          "allele": "C",
          "end": 1351,
          "referenceAllele": "T",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "NM_181871.4:c.1286T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_870986.1:p.Val429Ala",
        "hgvsWellDefined": "NP_870986.1:p.Val429Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701034"
    }
  ],
  "type": "nucleotide"
}