{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA252415",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.1120T>C (p.Phe374Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17814[alleleid]",
        "alleleId": 17814,
        "preferredName": "NM_024312.5(GNPTAB):c.1120T>C (p.Phe374Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2775",
        "RCV": [
          "RCV000002904",
          "RCV000002905"
        ],
        "variationId": 2775
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102163963A>G?assembly=hg19",
        "id": "chr12:g.102163963A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.101770185A>G?assembly=hg38",
        "id": "chr12:g.101770185A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852900",
        "rs": 137852900
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-101770185-A-G?dataset=gnomad_r3",
        "id": "12-101770185-A-G",
        "variant": "12:101770185 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-101770185-A-G?dataset=gnomad_r4",
        "id": "12-101770185-A-G",
        "variant": "12:101770185 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 101770185,
          "referenceAllele": "A",
          "start": 101770184
        }
      ],
      "hgvs": [
        "NC_000012.12:g.101770185A>G",
        "CM000674.2:g.101770185A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 102163963,
          "referenceAllele": "A",
          "start": 102163962
        }
      ],
      "hgvs": [
        "NC_000012.11:g.102163963A>G",
        "CM000674.1:g.102163963A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 100688094,
          "referenceAllele": "A",
          "start": 100688093
        }
      ],
      "hgvs": [
        "NC_000012.10:g.100688094A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 65683,
          "referenceAllele": "T",
          "start": 65682
        }
      ],
      "hgvs": [
        "NG_021243.1:g.65683T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1404,
          "referenceAllele": "T",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.12:c.1120T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Phe374Leu",
        "hgvsWellDefined": "ENSP00000299314.7:p.Phe374Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744661",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.1120T>C"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.1120T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Phe374Leu"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Phe374Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1383,
          "referenceAllele": "T",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.11:c.1120T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Phe374Leu",
        "hgvsWellDefined": "ENSP00000299314.7:p.Phe374Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1263,
          "referenceAllele": "T",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000549940.5:c.1120T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449150.1:p.Phe374Leu",
        "hgvsWellDefined": "ENSP00000449150.1:p.Phe374Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113388",
      "coordinates": [
        {
          "allele": "C",
          "end": 1312,
          "referenceAllele": "T",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.4:c.1120T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Phe374Leu",
        "hgvsWellDefined": "NP_077288.2:p.Phe374Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1307,
          "referenceAllele": "T",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.2:c.1120T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Phe374Leu",
        "hgvsWellDefined": "XP_006719656.1:p.Phe374Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073220"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1853,
          "referenceAllele": "T",
          "start": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.1:c.1039T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Phe347Leu",
        "hgvsWellDefined": "XP_011537033.1:p.Phe347Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1263,
          "referenceAllele": "T",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.3:c.1120T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Phe374Leu",
        "hgvsWellDefined": "XP_006719656.1:p.Phe374Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539901"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1308,
          "referenceAllele": "T",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.2:c.1039T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Phe347Leu",
        "hgvsWellDefined": "XP_011537033.1:p.Phe347Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553386"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1209,
          "referenceAllele": "T",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019961.1:c.904T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875450.1:p.Phe302Leu",
        "hgvsWellDefined": "XP_016875450.1:p.Phe302Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1386,
          "referenceAllele": "T",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019962.2:c.-108T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875451.1:n.-108T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113388",
      "coordinates": [
        {
          "allele": "C",
          "end": 1404,
          "referenceAllele": "T",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.5:c.1120T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Phe374Leu",
        "hgvsWellDefined": "NP_077288.2:p.Phe374Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.1120T>C"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.1120T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Phe374Leu"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Phe374Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}