{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA579169",
  "communityStandardTitle": [
    "NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=431637[alleleid]",
        "alleleId": 431637,
        "preferredName": "NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/438132",
        "RCV": [
          "RCV000504653",
          "RCV001314168"
        ],
        "variationId": 438132
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-10035689-G-T",
        "id": "1-10035689-G-T",
        "variant": "1:10035689 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.10035689G>T?assembly=hg19",
        "id": "chr1:g.10035689G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.9975631G>T?assembly=hg38",
        "id": "chr1:g.9975631G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/768528387",
        "rs": 768528387
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-10035689-G-T?dataset=gnomad_r2_1",
        "id": "1-10035689-G-T",
        "variant": "1:10035689 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-9975631-G-T?dataset=gnomad_r3",
        "id": "1-9975631-G-T",
        "variant": "1:9975631 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-9975631-G-T?dataset=gnomad_r4",
        "id": "1-9975631-G-T",
        "variant": "1:9975631 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 9975631,
          "referenceAllele": "G",
          "start": 9975630
        }
      ],
      "hgvs": [
        "NC_000001.11:g.9975631G>T",
        "CM000663.2:g.9975631G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 10035689,
          "referenceAllele": "G",
          "start": 10035688
        }
      ],
      "hgvs": [
        "NC_000001.10:g.10035689G>T",
        "CM000663.1:g.10035689G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 9958276,
          "referenceAllele": "G",
          "start": 9958275
        }
      ],
      "hgvs": [
        "NC_000001.9:g.9958276G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37204,
          "referenceAllele": "G",
          "start": 37203
        }
      ],
      "hgvs": [
        "NG_032954.1:g.37204G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005311"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 252,
          "referenceAllele": "G",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "ENST00000377205.6:c.155G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366410.1:p.Gly52Val",
        "hgvsWellDefined": "ENSP00000366410.1:p.Gly52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751884",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377205.6:c.155G>T"
          },
          "RefSeq": {
            "hgvs": "NM_022787.4:c.155G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366410.1:p.Gly52Val"
          },
          "RefSeq": {
            "hgvs": "NP_073624.2:p.Gly52Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "G",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "ENST00000377205.5:c.155G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366410.1:p.Gly52Val",
        "hgvsWellDefined": "ENSP00000366410.1:p.Gly52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271511"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "G",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "ENST00000403197.5:c.155G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385131.1:p.Gly52Val",
        "hgvsWellDefined": "ENSP00000385131.1:p.Gly52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 298,
          "referenceAllele": "G",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "ENST00000462686.1:c.155G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435134.1:p.Gly52Val",
        "hgvsWellDefined": "ENSP00000435134.1:p.Gly52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826847473",
      "coordinates": [
        {
          "allele": "T",
          "end": 314,
          "referenceAllele": "G",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "NM_001297778.1:c.155G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284707.1:p.Gly52Val",
        "hgvsWellDefined": "NP_001284707.1:p.Gly52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024783"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826847600",
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "G",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "NM_001297779.1:c.155G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284708.1:p.Gly52Val",
        "hgvsWellDefined": "NP_001284708.1:p.Gly52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645510721",
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "G",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "NM_022787.3:c.155G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_073624.2:p.Gly52Val",
        "hgvsWellDefined": "NP_073624.2:p.Gly52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 252,
          "referenceAllele": "G",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "XM_011541971.1:c.155G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540273.1:p.Gly52Val",
        "hgvsWellDefined": "XP_011540273.1:p.Gly52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 252,
          "referenceAllele": "G",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "XM_011541971.2:c.155G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540273.1:p.Gly52Val",
        "hgvsWellDefined": "XP_011540273.1:p.Gly52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 452,
          "referenceAllele": "G",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "XM_017002107.2:c.155G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857596.1:p.Gly52Val",
        "hgvsWellDefined": "XP_016857596.1:p.Gly52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 252,
          "referenceAllele": "G",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "XM_017002108.2:c.155G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857597.1:p.Gly52Val",
        "hgvsWellDefined": "XP_016857597.1:p.Gly52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645510721",
      "coordinates": [
        {
          "allele": "T",
          "end": 252,
          "referenceAllele": "G",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "NM_022787.4:c.155G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_073624.2:p.Gly52Val",
        "hgvsWellDefined": "NP_073624.2:p.Gly52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670505",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377205.6:c.155G>T"
          },
          "RefSeq": {
            "hgvs": "NM_022787.4:c.155G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366410.1:p.Gly52Val"
          },
          "RefSeq": {
            "hgvs": "NP_073624.2:p.Gly52Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826847600",
      "coordinates": [
        {
          "allele": "T",
          "end": 252,
          "referenceAllele": "G",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "NM_001297779.2:c.155G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284708.1:p.Gly52Val",
        "hgvsWellDefined": "NP_001284708.1:p.Gly52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683141"
    }
  ],
  "type": "nucleotide"
}