{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342751597",
  "communityStandardTitle": [
    "NM_000298.6(PKLR):c.1411A>T (p.Ile471Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3225970[alleleid]",
        "alleleId": 3225970,
        "preferredName": "NM_000298.6(PKLR):c.1411A>T (p.Ile471Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3065956",
        "RCV": [
          "RCV003989411"
        ],
        "variationId": 3065956
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.155262993T>A?assembly=hg19",
        "id": "chr1:g.155262993T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.155293202T>A?assembly=hg38",
        "id": "chr1:g.155293202T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2525277846",
        "rs": 2525277846
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-155293202-T-A?dataset=gnomad_r4",
        "id": "1-155293202-T-A",
        "variant": "1:155293202 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 155293202,
          "referenceAllele": "T",
          "start": 155293201
        }
      ],
      "hgvs": [
        "NC_000001.11:g.155293202T>A",
        "CM000663.2:g.155293202T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 155262993,
          "referenceAllele": "T",
          "start": 155262992
        }
      ],
      "hgvs": [
        "NC_000001.10:g.155262993T>A",
        "CM000663.1:g.155262993T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 153529617,
          "referenceAllele": "T",
          "start": 153529616
        }
      ],
      "hgvs": [
        "NC_000001.9:g.153529617T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13233,
          "referenceAllele": "A",
          "start": 13232
        }
      ],
      "hgvs": [
        "NG_011677.1:g.13233A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001893"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1454,
          "referenceAllele": "A",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "ENST00000342741.6:c.1411A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339933.4:p.Ile471Phe",
        "hgvsWellDefined": "ENSP00000339933.4:p.Ile471Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748088",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342741.6:c.1411A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000298.6:c.1411A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339933.4:p.Ile471Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000289.1:p.Ile471Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1450,
          "referenceAllele": "A",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "ENST00000342741.4:c.1411A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339933.4:p.Ile471Phe",
        "hgvsWellDefined": "ENSP00000339933.4:p.Ile471Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261622"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1432,
          "referenceAllele": "A",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "ENST00000392414.7:c.1318A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376214.3:p.Ile440Phe",
        "hgvsWellDefined": "ENSP00000376214.3:p.Ile440Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275080"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825112671",
      "coordinates": [
        {
          "allele": "T",
          "end": 1450,
          "referenceAllele": "A",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "NM_000298.5:c.1411A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000289.1:p.Ile471Phe",
        "hgvsWellDefined": "NP_000289.1:p.Ile471Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830405486",
      "coordinates": [
        {
          "allele": "T",
          "end": 1432,
          "referenceAllele": "A",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "NM_181871.3:c.1318A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_870986.1:p.Ile440Phe",
        "hgvsWellDefined": "NP_870986.1:p.Ile440Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1588,
          "referenceAllele": "A",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "XM_005245266.3:c.1570A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245323.1:p.Ile524Phe",
        "hgvsWellDefined": "XP_005245323.1:p.Ile524Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1340,
          "referenceAllele": "A",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "XM_006711386.2:c.1219A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711449.1:p.Ile407Phe",
        "hgvsWellDefined": "XP_006711449.1:p.Ile407Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1383,
          "referenceAllele": "A",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "XM_011509640.1:c.1219A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507942.1:p.Ile407Phe",
        "hgvsWellDefined": "XP_011507942.1:p.Ile407Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825112671",
      "coordinates": [
        {
          "allele": "T",
          "end": 1454,
          "referenceAllele": "A",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "NM_000298.6:c.1411A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000289.1:p.Ile471Phe",
        "hgvsWellDefined": "NP_000289.1:p.Ile471Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510777",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342741.6:c.1411A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000298.6:c.1411A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339933.4:p.Ile471Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000289.1:p.Ile471Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1367,
          "referenceAllele": "A",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "XM_006711386.4:c.1219A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711449.1:p.Ile407Phe",
        "hgvsWellDefined": "XP_006711449.1:p.Ile407Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537985"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1396,
          "referenceAllele": "A",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "XM_011509640.3:c.1219A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507942.1:p.Ile407Phe",
        "hgvsWellDefined": "XP_011507942.1:p.Ile407Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830405486",
      "coordinates": [
        {
          "allele": "T",
          "end": 1383,
          "referenceAllele": "A",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "NM_181871.4:c.1318A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_870986.1:p.Ile440Phe",
        "hgvsWellDefined": "NP_870986.1:p.Ile440Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701034"
    }
  ],
  "type": "nucleotide"
}