{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA391761727",
  "communityStandardTitle": [
    "NM_130468.4(CHST14):c.2T>C (p.Met1Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2062167[alleleid]",
        "alleleId": 2062167,
        "preferredName": "NM_130468.4(CHST14):c.2T>C (p.Met1Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2004232",
        "RCV": [
          "RCV002815956",
          "RCV003443083"
        ],
        "variationId": 2004232
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.40763414T>C?assembly=hg19",
        "id": "chr15:g.40763414T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.40471215T>C?assembly=hg38",
        "id": "chr15:g.40471215T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1894337954",
        "rs": 1894337954
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-40471215-T-C?dataset=gnomad_r4",
        "id": "15-40471215-T-C",
        "variant": "15:40471215 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 40471215,
          "referenceAllele": "T",
          "start": 40471214
        }
      ],
      "hgvs": [
        "NC_000015.10:g.40471215T>C",
        "CM000677.2:g.40471215T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 40763414,
          "referenceAllele": "T",
          "start": 40763413
        }
      ],
      "hgvs": [
        "NC_000015.9:g.40763414T>C",
        "CM000677.1:g.40763414T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 38550706,
          "referenceAllele": "T",
          "start": 38550705
        }
      ],
      "hgvs": [
        "NC_000015.8:g.38550706T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5255,
          "referenceAllele": "T",
          "start": 5254
        }
      ],
      "hgvs": [
        "NG_017074.1:g.5255T>C",
        "LRG_600:g.5255T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003410"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 232,
          "referenceAllele": "T",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024464",
      "geneNCBI_id": 113189,
      "geneSymbol": "CHST14",
      "hgvs": [
        "ENST00000306243.7:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307297.6:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000307297.6:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745269",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000306243.7:c.2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_130468.4:c.2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307297.6:p.Met1Thr"
          },
          "RefSeq": {
            "hgvs": "NP_569735.1:p.Met1Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 218,
          "referenceAllele": "T",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024464",
      "geneNCBI_id": 113189,
      "geneSymbol": "CHST14",
      "hgvs": [
        "ENST00000306243.6:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307297.5:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000307297.5:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255701"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 130,
          "referenceAllele": "T",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024464",
      "geneNCBI_id": 113189,
      "geneSymbol": "CHST14",
      "hgvs": [
        "ENST00000559991.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453882.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000453882.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375013"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580505260",
      "coordinates": [
        {
          "allele": "C",
          "end": 255,
          "referenceAllele": "T",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024464",
      "geneNCBI_id": 113189,
      "geneSymbol": "CHST14",
      "hgvs": [
        "NM_130468.3:c.2T>C",
        "LRG_600t1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_569735.1:p.Met1Thr",
        "hgvsWellDefined": "NP_569735.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580505260",
      "coordinates": [
        {
          "allele": "C",
          "end": 232,
          "referenceAllele": "T",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024464",
      "geneNCBI_id": 113189,
      "geneSymbol": "CHST14",
      "hgvs": [
        "NM_130468.4:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_569735.1:p.Met1Thr",
        "hgvsWellDefined": "NP_569735.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699590",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000306243.7:c.2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_130468.4:c.2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307297.6:p.Met1Thr"
          },
          "RefSeq": {
            "hgvs": "NP_569735.1:p.Met1Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}