{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA387646323",
  "communityStandardTitle": [
    "NM_000209.4(PDX1):c.670G>C (p.Glu224Gln)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.28498656G>C?assembly=hg19",
        "id": "chr13:g.28498656G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.27924519G>C?assembly=hg38",
        "id": "chr13:g.27924519G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852787",
        "rs": 137852787
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-27924519-G-C?dataset=gnomad_r4",
        "id": "13-27924519-G-C",
        "variant": "13:27924519 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 27924519,
          "referenceAllele": "G",
          "start": 27924518
        }
      ],
      "hgvs": [
        "NC_000013.11:g.27924519G>C",
        "CM000675.2:g.27924519G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 28498656,
          "referenceAllele": "G",
          "start": 28498655
        }
      ],
      "hgvs": [
        "NC_000013.10:g.28498656G>C",
        "CM000675.1:g.28498656G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 27396656,
          "referenceAllele": "G",
          "start": 27396655
        }
      ],
      "hgvs": [
        "NC_000013.9:g.27396656G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9489,
          "referenceAllele": "G",
          "start": 9488
        }
      ],
      "hgvs": [
        "NG_008183.1:g.9489G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000928"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 809,
          "referenceAllele": "G",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006107",
      "geneNCBI_id": 3651,
      "geneSymbol": "PDX1",
      "hgvs": [
        "ENST00000381033.5:c.670G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370421.4:p.Glu224Gln",
        "hgvsWellDefined": "ENSP00000370421.4:p.Glu224Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752478",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381033.5:c.670G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000209.4:c.670G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370421.4:p.Glu224Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000200.1:p.Glu224Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 789,
          "referenceAllele": "G",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006107",
      "geneNCBI_id": 3651,
      "geneSymbol": "PDX1",
      "hgvs": [
        "ENST00000381033.4:c.670G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370421.4:p.Glu224Gln",
        "hgvsWellDefined": "ENSP00000370421.4:p.Glu224Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273192"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080629735",
      "coordinates": [
        {
          "allele": "C",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006107",
      "geneNCBI_id": 3651,
      "geneSymbol": "PDX1",
      "hgvs": [
        "NM_000209.3:c.670G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000200.1:p.Glu224Gln",
        "hgvsWellDefined": "NP_000200.1:p.Glu224Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080629735",
      "coordinates": [
        {
          "allele": "C",
          "end": 809,
          "referenceAllele": "G",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006107",
      "geneNCBI_id": 3651,
      "geneSymbol": "PDX1",
      "hgvs": [
        "NM_000209.4:c.670G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000200.1:p.Glu224Gln",
        "hgvsWellDefined": "NP_000200.1:p.Glu224Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381033.5:c.670G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000209.4:c.670G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370421.4:p.Glu224Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000200.1:p.Glu224Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}