{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1023034",
  "communityStandardTitle": [
    "NM_002506.3(NGF):c.191C>T (p.Ala64Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=447178[alleleid]",
        "alleleId": 447178,
        "preferredName": "NM_002506.3(NGF):c.191C>T (p.Ala64Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/456628",
        "RCV": [
          "RCV000531393",
          "RCV000597730",
          "RCV002413447"
        ],
        "variationId": 456628
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-115829226-G-A",
        "id": "1-115829226-G-A",
        "variant": "1:115829226 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.115829226G>A?assembly=hg19",
        "id": "chr1:g.115829226G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.115286605G>A?assembly=hg38",
        "id": "chr1:g.115286605G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201087374",
        "rs": 201087374
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-115829226-G-A?dataset=gnomad_r2_1",
        "id": "1-115829226-G-A",
        "variant": "1:115829226 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-115286605-G-A?dataset=gnomad_r3",
        "id": "1-115286605-G-A",
        "variant": "1:115286605 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-115286605-G-A?dataset=gnomad_r4",
        "id": "1-115286605-G-A",
        "variant": "1:115286605 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 115286605,
          "referenceAllele": "G",
          "start": 115286604
        }
      ],
      "hgvs": [
        "NC_000001.11:g.115286605G>A",
        "CM000663.2:g.115286605G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 115829226,
          "referenceAllele": "G",
          "start": 115829225
        }
      ],
      "hgvs": [
        "NC_000001.10:g.115829226G>A",
        "CM000663.1:g.115829226G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 115630749,
          "referenceAllele": "G",
          "start": 115630748
        }
      ],
      "hgvs": [
        "NC_000001.9:g.115630749G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 56632,
          "referenceAllele": "C",
          "start": 56631
        }
      ],
      "hgvs": [
        "NG_007944.1:g.56632C>T",
        "LRG_260:g.56632C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000712"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007808",
      "geneNCBI_id": 4803,
      "geneSymbol": "NGF",
      "hgvs": [
        "ENST00000369512.3:c.191C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358525.2:p.Ala64Val",
        "hgvsWellDefined": "ENSP00000358525.2:p.Ala64Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750421",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369512.3:c.191C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002506.3:c.191C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358525.2:p.Ala64Val"
          },
          "RefSeq": {
            "hgvs": "NP_002497.2:p.Ala64Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 253,
          "referenceAllele": "C",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007808",
      "geneNCBI_id": 4803,
      "geneSymbol": "NGF",
      "hgvs": [
        "ENST00000675637.2:c.191C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502831.1:p.Ala64Val",
        "hgvsWellDefined": "ENSP00000502831.1:p.Ala64Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775429"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 467,
          "referenceAllele": "C",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007808",
      "geneNCBI_id": 4803,
      "geneSymbol": "NGF",
      "hgvs": [
        "ENST00000676038.2:c.191C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502380.1:p.Ala64Val",
        "hgvsWellDefined": "ENSP00000502380.1:p.Ala64Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "C",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007808",
      "geneNCBI_id": 4803,
      "geneSymbol": "NGF",
      "hgvs": [
        "ENST00000679806.1:c.191C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506492.1:p.Ala64Val",
        "hgvsWellDefined": "ENSP00000506492.1:p.Ala64Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779430"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 843,
          "referenceAllele": "C",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007808",
      "geneNCBI_id": 4803,
      "geneSymbol": "NGF",
      "hgvs": [
        "ENST00000680116.1:c.191C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505694.1:p.Ala64Val",
        "hgvsWellDefined": "ENSP00000505694.1:p.Ala64Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2417,
          "referenceAllele": "C",
          "start": 2416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007808",
      "geneNCBI_id": 4803,
      "geneSymbol": "NGF",
      "hgvs": [
        "ENST00000680540.1:c.191C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506569.1:p.Ala64Val",
        "hgvsWellDefined": "ENSP00000506569.1:p.Ala64Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 422,
          "referenceAllele": "C",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007808",
      "geneNCBI_id": 4803,
      "geneSymbol": "NGF",
      "hgvs": [
        "ENST00000680752.1:c.191C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505558.1:p.Ala64Val",
        "hgvsWellDefined": "ENSP00000505558.1:p.Ala64Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 310,
          "referenceAllele": "C",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007808",
      "geneNCBI_id": 4803,
      "geneSymbol": "NGF",
      "hgvs": [
        "ENST00000681124.1:c.-281C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506364.1:n.-281C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 360,
          "referenceAllele": "C",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007808",
      "geneNCBI_id": 4803,
      "geneSymbol": "NGF",
      "hgvs": [
        "ENST00000369512.2:c.191C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358525.2:p.Ala64Val",
        "hgvsWellDefined": "ENSP00000358525.2:p.Ala64Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267554"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658672929",
      "coordinates": [
        {
          "allele": "T",
          "end": 360,
          "referenceAllele": "C",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007808",
      "geneNCBI_id": 4803,
      "geneSymbol": "NGF",
      "hgvs": [
        "NM_002506.2:c.191C>T",
        "LRG_260t1:c.191C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002497.2:p.Ala64Val",
        "hgvsWellDefined": "NP_002497.2:p.Ala64Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 223,
          "referenceAllele": "C",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007808",
      "geneNCBI_id": 4803,
      "geneSymbol": "NGF",
      "hgvs": [
        "XM_006710663.2:c.191C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710726.1:p.Ala64Val",
        "hgvsWellDefined": "XP_006710726.1:p.Ala64Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 347,
          "referenceAllele": "C",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007808",
      "geneNCBI_id": 4803,
      "geneSymbol": "NGF",
      "hgvs": [
        "XM_006710665.2:c.191C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710728.1:p.Ala64Val",
        "hgvsWellDefined": "XP_006710728.1:p.Ala64Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "referenceAllele": "C",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007808",
      "geneNCBI_id": 4803,
      "geneSymbol": "NGF",
      "hgvs": [
        "XM_011541518.1:c.356C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539820.1:p.Ala119Val",
        "hgvsWellDefined": "XP_011539820.1:p.Ala119Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108455"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 207,
          "endIntronDirection": "+",
          "endIntronOffset": 3365,
          "referenceAllele": "G",
          "start": 207,
          "startIntronDirection": "+",
          "startIntronOffset": 3364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN053922",
      "geneNCBI_id": 112840934,
      "geneSymbol": "NGF-AS1",
      "hgvs": [
        "NR_157569.1:n.207+3365G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS532012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 253,
          "referenceAllele": "C",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007808",
      "geneNCBI_id": 4803,
      "geneSymbol": "NGF",
      "hgvs": [
        "XM_006710663.3:c.191C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710726.1:p.Ala64Val",
        "hgvsWellDefined": "XP_006710726.1:p.Ala64Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537848"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3398,
          "referenceAllele": "C",
          "start": 3397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007808",
      "geneNCBI_id": 4803,
      "geneSymbol": "NGF",
      "hgvs": [
        "XM_011541518.2:c.356C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539820.1:p.Ala119Val",
        "hgvsWellDefined": "XP_011539820.1:p.Ala119Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554475"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658672929",
      "coordinates": [
        {
          "allele": "T",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007808",
      "geneNCBI_id": 4803,
      "geneSymbol": "NGF",
      "hgvs": [
        "NM_002506.3:c.191C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002497.2:p.Ala64Val",
        "hgvsWellDefined": "NP_002497.2:p.Ala64Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695561",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369512.3:c.191C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002506.3:c.191C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358525.2:p.Ala64Val"
          },
          "RefSeq": {
            "hgvs": "NP_002497.2:p.Ala64Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}