{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA260598",
  "communityStandardTitle": [
    "NM_022787.4(NMNAT1):c.457C>G (p.Leu153Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45800[alleleid]",
        "alleleId": 45800,
        "preferredName": "NM_022787.4(NMNAT1):c.457C>G (p.Leu153Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37139",
        "RCV": [
          "RCV000030770"
        ],
        "variationId": 37139
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-10042376-C-G",
        "id": "1-10042376-C-G",
        "variant": "1:10042376 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.10042376C>G?assembly=hg19",
        "id": "chr1:g.10042376C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.9982318C>G?assembly=hg38",
        "id": "chr1:g.9982318C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387907293",
        "rs": 387907293
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-10042376-C-G?dataset=gnomad_r2_1",
        "id": "1-10042376-C-G",
        "variant": "1:10042376 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-9982318-C-G?dataset=gnomad_r3",
        "id": "1-9982318-C-G",
        "variant": "1:9982318 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-9982318-C-G?dataset=gnomad_r4",
        "id": "1-9982318-C-G",
        "variant": "1:9982318 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 9982318,
          "referenceAllele": "C",
          "start": 9982317
        }
      ],
      "hgvs": [
        "NC_000001.11:g.9982318C>G",
        "CM000663.2:g.9982318C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 10042376,
          "referenceAllele": "C",
          "start": 10042375
        }
      ],
      "hgvs": [
        "NC_000001.10:g.10042376C>G",
        "CM000663.1:g.10042376C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 9964963,
          "referenceAllele": "C",
          "start": 9964962
        }
      ],
      "hgvs": [
        "NC_000001.9:g.9964963C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43891,
          "referenceAllele": "C",
          "start": 43890
        }
      ],
      "hgvs": [
        "NG_032954.1:g.43891C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005311"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 554,
          "referenceAllele": "C",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "ENST00000377205.6:c.457C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366410.1:p.Leu153Val",
        "hgvsWellDefined": "ENSP00000366410.1:p.Leu153Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751884",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377205.6:c.457C>G"
          },
          "RefSeq": {
            "hgvs": "NM_022787.4:c.457C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366410.1:p.Leu153Val"
          },
          "RefSeq": {
            "hgvs": "NP_073624.2:p.Leu153Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "ENST00000377205.5:c.457C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366410.1:p.Leu153Val",
        "hgvsWellDefined": "ENSP00000366410.1:p.Leu153Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271511"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 600,
          "referenceAllele": "C",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "ENST00000462686.1:c.457C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435134.1:p.Leu153Val",
        "hgvsWellDefined": "ENSP00000435134.1:p.Leu153Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306882"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 119,
          "endIntronDirection": "+",
          "endIntronOffset": 1148,
          "referenceAllele": "C",
          "start": 119,
          "startIntronDirection": "+",
          "startIntronOffset": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "ENST00000496751.1:c.119+1148C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333144"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093341",
      "coordinates": [
        {
          "allele": "G",
          "end": 616,
          "referenceAllele": "C",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "NM_001297778.1:c.457C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284707.1:p.Leu153Val",
        "hgvsWellDefined": "NP_001284707.1:p.Leu153Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024783"
    },
    {
      "@id": "http://reg.genome.network/allele/PA260599",
      "coordinates": [
        {
          "allele": "G",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "NM_022787.3:c.457C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_073624.2:p.Leu153Val",
        "hgvsWellDefined": "NP_073624.2:p.Leu153Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037454"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 536,
          "endIntronDirection": "+",
          "endIntronOffset": 1148,
          "referenceAllele": "C",
          "start": 536,
          "startIntronDirection": "+",
          "startIntronOffset": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "XM_011541971.1:c.439+1148C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540273.1:n.439+1148C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108905"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 536,
          "endIntronDirection": "+",
          "endIntronOffset": 1148,
          "referenceAllele": "C",
          "start": 536,
          "startIntronDirection": "+",
          "startIntronOffset": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "XM_011541971.2:c.439+1148C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540273.1:n.439+1148C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 754,
          "referenceAllele": "C",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "XM_017002107.2:c.457C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857596.1:p.Leu153Val",
        "hgvsWellDefined": "XP_016857596.1:p.Leu153Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 536,
          "endIntronDirection": "+",
          "endIntronOffset": 1148,
          "referenceAllele": "C",
          "start": 536,
          "startIntronDirection": "+",
          "startIntronOffset": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "XM_017002108.2:c.439+1148C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857597.1:n.439+1148C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA260599",
      "coordinates": [
        {
          "allele": "G",
          "end": 554,
          "referenceAllele": "C",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "NM_022787.4:c.457C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_073624.2:p.Leu153Val",
        "hgvsWellDefined": "NP_073624.2:p.Leu153Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670505",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377205.6:c.457C>G"
          },
          "RefSeq": {
            "hgvs": "NM_022787.4:c.457C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366410.1:p.Leu153Val"
          },
          "RefSeq": {
            "hgvs": "NP_073624.2:p.Leu153Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}