{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA170850",
  "communityStandardTitle": [
    "NM_058179.4(PSAT1):c.296C>T (p.Ala99Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=166144[alleleid]",
        "alleleId": 166144,
        "preferredName": "NM_058179.4(PSAT1):c.296C>T (p.Ala99Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/156364",
        "RCV": [
          "RCV000144448",
          "RCV001254372"
        ],
        "variationId": 156364
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-80919755-C-T",
        "id": "9-80919755-C-T",
        "variant": "9:80919755 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.80919755C>T?assembly=hg19",
        "id": "chr9:g.80919755C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.78304839C>T?assembly=hg38",
        "id": "chr9:g.78304839C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777778",
        "rs": 587777778
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-80919755-C-T?dataset=gnomad_r2_1",
        "id": "9-80919755-C-T",
        "variant": "9:80919755 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-78304839-C-T?dataset=gnomad_r3",
        "id": "9-78304839-C-T",
        "variant": "9:78304839 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-78304839-C-T?dataset=gnomad_r4",
        "id": "9-78304839-C-T",
        "variant": "9:78304839 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 78304839,
          "referenceAllele": "C",
          "start": 78304838
        }
      ],
      "hgvs": [
        "NC_000009.12:g.78304839C>T",
        "CM000671.2:g.78304839C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 80919755,
          "referenceAllele": "C",
          "start": 80919754
        }
      ],
      "hgvs": [
        "NC_000009.11:g.80919755C>T",
        "CM000671.1:g.80919755C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 80109575,
          "referenceAllele": "C",
          "start": 80109574
        }
      ],
      "hgvs": [
        "NC_000009.10:g.80109575C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12697,
          "referenceAllele": "C",
          "start": 12696
        }
      ],
      "hgvs": [
        "NG_012165.1:g.12697C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002248"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019129",
      "geneNCBI_id": 29968,
      "geneSymbol": "PSAT1",
      "hgvs": [
        "ENST00000376588.4:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365773.3:p.Ala99Val",
        "hgvsWellDefined": "ENSP00000365773.3:p.Ala99Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751787",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376588.4:c.296C>T"
          },
          "RefSeq": {
            "hgvs": "NM_058179.4:c.296C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365773.3:p.Ala99Val"
          },
          "RefSeq": {
            "hgvs": "NP_478059.1:p.Ala99Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 364,
          "referenceAllele": "C",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019129",
      "geneNCBI_id": 29968,
      "geneSymbol": "PSAT1",
      "hgvs": [
        "ENST00000347159.6:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317606.2:p.Ala99Val",
        "hgvsWellDefined": "ENSP00000317606.2:p.Ala99Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 364,
          "referenceAllele": "C",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019129",
      "geneNCBI_id": 29968,
      "geneSymbol": "PSAT1",
      "hgvs": [
        "ENST00000376588.3:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365773.3:p.Ala99Val",
        "hgvsWellDefined": "ENSP00000365773.3:p.Ala99Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271233"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829969094",
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "referenceAllele": "C",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019129",
      "geneNCBI_id": 29968,
      "geneSymbol": "PSAT1",
      "hgvs": [
        "NM_021154.4:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066977.1:p.Ala99Val",
        "hgvsWellDefined": "NP_066977.1:p.Ala99Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036870"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096244",
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "referenceAllele": "C",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019129",
      "geneNCBI_id": 29968,
      "geneSymbol": "PSAT1",
      "hgvs": [
        "NM_058179.3:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_478059.1:p.Ala99Val",
        "hgvsWellDefined": "NP_478059.1:p.Ala99Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040084"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096244",
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019129",
      "geneNCBI_id": 29968,
      "geneSymbol": "PSAT1",
      "hgvs": [
        "NM_058179.4:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_478059.1:p.Ala99Val",
        "hgvsWellDefined": "NP_478059.1:p.Ala99Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671697",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376588.4:c.296C>T"
          },
          "RefSeq": {
            "hgvs": "NM_058179.4:c.296C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365773.3:p.Ala99Val"
          },
          "RefSeq": {
            "hgvs": "NP_478059.1:p.Ala99Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829969094",
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019129",
      "geneNCBI_id": 29968,
      "geneSymbol": "PSAT1",
      "hgvs": [
        "NM_021154.5:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066977.1:p.Ala99Val",
        "hgvsWellDefined": "NP_066977.1:p.Ala99Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698387"
    }
  ],
  "type": "nucleotide"
}