{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA387644529",
  "communityStandardTitle": [
    "NM_000209.4(PDX1):c.226G>T (p.Asp76Tyr)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.28494501G>T?assembly=hg19",
        "id": "chr13:g.28494501G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.27920364G>T?assembly=hg38",
        "id": "chr13:g.27920364G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852783",
        "rs": 137852783
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-27920364-G-T?dataset=gnomad_r4",
        "id": "13-27920364-G-T",
        "variant": "13:27920364 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 27920364,
          "referenceAllele": "G",
          "start": 27920363
        }
      ],
      "hgvs": [
        "NC_000013.11:g.27920364G>T",
        "CM000675.2:g.27920364G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 28494501,
          "referenceAllele": "G",
          "start": 28494500
        }
      ],
      "hgvs": [
        "NC_000013.10:g.28494501G>T",
        "CM000675.1:g.28494501G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 27392501,
          "referenceAllele": "G",
          "start": 27392500
        }
      ],
      "hgvs": [
        "NC_000013.9:g.27392501G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5334,
          "referenceAllele": "G",
          "start": 5333
        }
      ],
      "hgvs": [
        "NG_008183.1:g.5334G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000928"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 365,
          "referenceAllele": "G",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006107",
      "geneNCBI_id": 3651,
      "geneSymbol": "PDX1",
      "hgvs": [
        "ENST00000381033.5:c.226G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370421.4:p.Asp76Tyr",
        "hgvsWellDefined": "ENSP00000370421.4:p.Asp76Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752478",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381033.5:c.226G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000209.4:c.226G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370421.4:p.Asp76Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000200.1:p.Asp76Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 345,
          "referenceAllele": "G",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006107",
      "geneNCBI_id": 3651,
      "geneSymbol": "PDX1",
      "hgvs": [
        "ENST00000381033.4:c.226G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370421.4:p.Asp76Tyr",
        "hgvsWellDefined": "ENSP00000370421.4:p.Asp76Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273192"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080629731",
      "coordinates": [
        {
          "allele": "T",
          "end": 334,
          "referenceAllele": "G",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006107",
      "geneNCBI_id": 3651,
      "geneSymbol": "PDX1",
      "hgvs": [
        "NM_000209.3:c.226G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000200.1:p.Asp76Tyr",
        "hgvsWellDefined": "NP_000200.1:p.Asp76Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 241,
          "endIntronDirection": "+",
          "endIntronOffset": 800,
          "referenceAllele": "C",
          "start": 241,
          "startIntronDirection": "+",
          "startIntronOffset": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043698",
      "geneNCBI_id": 100861550,
      "geneSymbol": "PLUT",
      "hgvs": [
        "NR_047484.1:n.241+800C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 371,
          "referenceAllele": "G",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006107",
      "geneNCBI_id": 3651,
      "geneSymbol": "PDX1",
      "hgvs": [
        "XR_941578.1:n.371G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 371,
          "referenceAllele": "G",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006107",
      "geneNCBI_id": 3651,
      "geneSymbol": "PDX1",
      "hgvs": [
        "XR_941579.1:n.371G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 371,
          "referenceAllele": "G",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006107",
      "geneNCBI_id": 3651,
      "geneSymbol": "PDX1",
      "hgvs": [
        "XR_941580.1:n.371G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 383,
          "referenceAllele": "G",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006107",
      "geneNCBI_id": 3651,
      "geneSymbol": "PDX1",
      "hgvs": [
        "XR_941578.2:n.383G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 383,
          "referenceAllele": "G",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006107",
      "geneNCBI_id": 3651,
      "geneSymbol": "PDX1",
      "hgvs": [
        "XR_941580.2:n.383G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612990"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080629731",
      "coordinates": [
        {
          "allele": "T",
          "end": 365,
          "referenceAllele": "G",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006107",
      "geneNCBI_id": 3651,
      "geneSymbol": "PDX1",
      "hgvs": [
        "NM_000209.4:c.226G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000200.1:p.Asp76Tyr",
        "hgvsWellDefined": "NP_000200.1:p.Asp76Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381033.5:c.226G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000209.4:c.226G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370421.4:p.Asp76Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000200.1:p.Asp76Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}