{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA114321",
  "communityStandardTitle": [
    "NM_000317.3(PTS):c.139A>G (p.Asn47Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15521[alleleid]",
        "alleleId": 15521,
        "preferredName": "NM_000317.3(PTS):c.139A>G (p.Asn47Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/482",
        "RCV": [
          "RCV000000511"
        ],
        "variationId": 482
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.112099372A>G?assembly=hg19",
        "id": "chr11:g.112099372A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.112228649A>G?assembly=hg38",
        "id": "chr11:g.112228649A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894278",
        "rs": 104894278
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-112099372-A-G?dataset=gnomad_r2_1",
        "id": "11-112099372-A-G",
        "variant": "11:112099372 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-112228649-A-G?dataset=gnomad_r4",
        "id": "11-112228649-A-G",
        "variant": "11:112228649 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 112228649,
          "referenceAllele": "A",
          "start": 112228648
        }
      ],
      "hgvs": [
        "NC_000011.10:g.112228649A>G",
        "CM000673.2:g.112228649A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 112099372,
          "referenceAllele": "A",
          "start": 112099371
        }
      ],
      "hgvs": [
        "NC_000011.9:g.112099372A>G",
        "CM000673.1:g.112099372A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 111604582,
          "referenceAllele": "A",
          "start": 111604581
        }
      ],
      "hgvs": [
        "NC_000011.8:g.111604582A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7285,
          "referenceAllele": "A",
          "start": 7284
        }
      ],
      "hgvs": [
        "NG_008743.1:g.7285A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001195"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 155,
          "referenceAllele": "A",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009689",
      "geneNCBI_id": 5805,
      "geneSymbol": "PTS",
      "hgvs": [
        "ENST00000280362.8:c.139A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280362.3:p.Asn47Asp",
        "hgvsWellDefined": "ENSP00000280362.3:p.Asn47Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743562",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280362.8:c.139A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000317.3:c.139A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280362.3:p.Asn47Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000308.1:p.Asn47Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 218,
          "referenceAllele": "A",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009689",
      "geneNCBI_id": 5805,
      "geneSymbol": "PTS",
      "hgvs": [
        "ENST00000280362.7:c.139A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280362.3:p.Asn47Asp",
        "hgvsWellDefined": "ENSP00000280362.3:p.Asn47Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252929"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 142,
          "referenceAllele": "A",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009689",
      "geneNCBI_id": 5805,
      "geneSymbol": "PTS",
      "hgvs": [
        "ENST00000524931.1:c.-66A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434688.1:n.-66A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351024"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 214,
          "referenceAllele": "A",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009689",
      "geneNCBI_id": 5805,
      "geneSymbol": "PTS",
      "hgvs": [
        "ENST00000525645.1:n.214A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351635"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 151,
          "referenceAllele": "A",
          "start": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009689",
      "geneNCBI_id": 5805,
      "geneSymbol": "PTS",
      "hgvs": [
        "ENST00000525803.1:c.139A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431750.1:p.Asn47Asp",
        "hgvsWellDefined": "ENSP00000431750.1:p.Asn47Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 216,
          "referenceAllele": "A",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009689",
      "geneNCBI_id": 5805,
      "geneSymbol": "PTS",
      "hgvs": [
        "ENST00000528679.5:c.139A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435895.1:p.Asn47Asp",
        "hgvsWellDefined": "ENSP00000435895.1:p.Asn47Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 195,
          "referenceAllele": "A",
          "start": 194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009689",
      "geneNCBI_id": 5805,
      "geneSymbol": "PTS",
      "hgvs": [
        "ENST00000531673.5:c.139A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433469.1:p.Asn47Asp",
        "hgvsWellDefined": "ENSP00000433469.1:p.Asn47Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356730"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113139",
      "coordinates": [
        {
          "allele": "G",
          "end": 218,
          "referenceAllele": "A",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009689",
      "geneNCBI_id": 5805,
      "geneSymbol": "PTS",
      "hgvs": [
        "NM_000317.2:c.139A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000308.1:p.Asn47Asp",
        "hgvsWellDefined": "NP_000308.1:p.Asn47Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006381"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113139",
      "coordinates": [
        {
          "allele": "G",
          "end": 155,
          "referenceAllele": "A",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009689",
      "geneNCBI_id": 5805,
      "geneSymbol": "PTS",
      "hgvs": [
        "NM_000317.3:c.139A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000308.1:p.Asn47Asp",
        "hgvsWellDefined": "NP_000308.1:p.Asn47Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662400",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280362.8:c.139A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000317.3:c.139A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280362.3:p.Asn47Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000308.1:p.Asn47Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}