{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367442842",
  "communityStandardTitle": [
    "NM_001146334.2(NACAD):c.1402G>T (p.Val468Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2205642[alleleid]",
        "alleleId": 2205642,
        "preferredName": "NM_001146334.2(NACAD):c.1402G>T (p.Val468Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2214858",
        "RCV": [
          "RCV004082552"
        ],
        "variationId": 2214858
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.45124377C>A?assembly=hg19",
        "id": "chr7:g.45124377C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.45084778C>A?assembly=hg38",
        "id": "chr7:g.45084778C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1347415865",
        "rs": 1347415865
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-45124377-C-A?dataset=gnomad_r2_1",
        "id": "7-45124377-C-A",
        "variant": "7:45124377 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-45084778-C-A?dataset=gnomad_r3",
        "id": "7-45084778-C-A",
        "variant": "7:45084778 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-45084778-C-A?dataset=gnomad_r4",
        "id": "7-45084778-C-A",
        "variant": "7:45084778 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 45084778,
          "referenceAllele": "C",
          "start": 45084777
        }
      ],
      "hgvs": [
        "NC_000007.14:g.45084778C>A",
        "CM000669.2:g.45084778C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 45124377,
          "referenceAllele": "C",
          "start": 45124376
        }
      ],
      "hgvs": [
        "NC_000007.13:g.45124377C>A",
        "CM000669.1:g.45124377C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 45090902,
          "referenceAllele": "C",
          "start": 45090901
        }
      ],
      "hgvs": [
        "NC_000007.12:g.45090902C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1477,
          "referenceAllele": "G",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022196",
      "geneNCBI_id": 23148,
      "geneSymbol": "NACAD",
      "hgvs": [
        "ENST00000490531.3:c.1402G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420477.2:p.Val468Leu",
        "hgvsWellDefined": "ENSP00000420477.2:p.Val468Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757641",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000490531.3:c.1402G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001146334.2:c.1402G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000420477.2:p.Val468Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001139806.1:p.Val468Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1422,
          "referenceAllele": "G",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022196",
      "geneNCBI_id": 23148,
      "geneSymbol": "NACAD",
      "hgvs": [
        "ENST00000490531.2:c.1402G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420477.2:p.Val468Leu",
        "hgvsWellDefined": "ENSP00000420477.2:p.Val468Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328329"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580166777",
      "coordinates": [
        {
          "allele": "T",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022196",
      "geneNCBI_id": 23148,
      "geneSymbol": "NACAD",
      "hgvs": [
        "NM_001146334.1:c.1402G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139806.1:p.Val468Leu",
        "hgvsWellDefined": "NP_001139806.1:p.Val468Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1469,
          "referenceAllele": "G",
          "start": 1468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022196",
      "geneNCBI_id": 23148,
      "geneSymbol": "NACAD",
      "hgvs": [
        "XM_006715674.2:c.1402G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715737.1:p.Val468Leu",
        "hgvsWellDefined": "XP_006715737.1:p.Val468Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071289"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1951,
          "referenceAllele": "G",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022196",
      "geneNCBI_id": 23148,
      "geneSymbol": "NACAD",
      "hgvs": [
        "XM_006715674.3:c.1402G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715737.1:p.Val468Leu",
        "hgvsWellDefined": "XP_006715737.1:p.Val468Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538997"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1960,
          "referenceAllele": "G",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022196",
      "geneNCBI_id": 23148,
      "geneSymbol": "NACAD",
      "hgvs": [
        "XR_002956415.1:n.1960G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602576"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580166777",
      "coordinates": [
        {
          "allele": "T",
          "end": 1477,
          "referenceAllele": "G",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022196",
      "geneNCBI_id": 23148,
      "geneSymbol": "NACAD",
      "hgvs": [
        "NM_001146334.2:c.1402G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139806.1:p.Val468Leu",
        "hgvsWellDefined": "NP_001139806.1:p.Val468Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663798",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000490531.3:c.1402G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001146334.2:c.1402G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000420477.2:p.Val468Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001139806.1:p.Val468Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}