{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA120040",
  "communityStandardTitle": [
    "NM_000349.3(STAR):c.653C>T (p.Ala218Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24032[alleleid]",
        "alleleId": 24032,
        "preferredName": "NM_000349.3(STAR):c.653C>T (p.Ala218Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8993",
        "RCV": [
          "RCV000009556",
          "RCV001388088"
        ],
        "variationId": 8993
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-38002831-G-A",
        "id": "8-38002831-G-A",
        "variant": "8:38002831 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.38002831G>A?assembly=hg19",
        "id": "chr8:g.38002831G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.38145313G>A?assembly=hg38",
        "id": "chr8:g.38145313G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852690",
        "rs": 137852690
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-38002831-G-A?dataset=gnomad_r2_1",
        "id": "8-38002831-G-A",
        "variant": "8:38002831 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-38145313-G-A?dataset=gnomad_r3",
        "id": "8-38145313-G-A",
        "variant": "8:38145313 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-38145313-G-A?dataset=gnomad_r4",
        "id": "8-38145313-G-A",
        "variant": "8:38145313 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 38145313,
          "referenceAllele": "G",
          "start": 38145312
        }
      ],
      "hgvs": [
        "NC_000008.11:g.38145313G>A",
        "CM000670.2:g.38145313G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 38002831,
          "referenceAllele": "G",
          "start": 38002830
        }
      ],
      "hgvs": [
        "NC_000008.10:g.38002831G>A",
        "CM000670.1:g.38002831G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 38121988,
          "referenceAllele": "G",
          "start": 38121987
        }
      ],
      "hgvs": [
        "NC_000008.9:g.38121988G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10770,
          "referenceAllele": "C",
          "start": 10769
        }
      ],
      "hgvs": [
        "NG_011827.1:g.10770C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002007"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "referenceAllele": "C",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "ENST00000276449.9:c.653C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000276449.3:p.Ala218Val",
        "hgvsWellDefined": "ENSP00000276449.3:p.Ala218Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743427",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000276449.9:c.653C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000349.3:c.653C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000276449.3:p.Ala218Val"
          },
          "RefSeq": {
            "hgvs": "NP_000340.2:p.Ala218Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1100,
          "referenceAllele": "C",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "ENST00000276449.8:c.653C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000276449.3:p.Ala218Val",
        "hgvsWellDefined": "ENSP00000276449.3:p.Ala218Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1787,
          "referenceAllele": "C",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "ENST00000520114.1:n.1787C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "endIntronDirection": "+",
          "endIntronOffset": 650,
          "referenceAllele": "C",
          "start": 586,
          "startIntronDirection": "+",
          "startIntronOffset": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "ENST00000522050.1:c.586+650C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS348742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094962",
      "coordinates": [
        {
          "allele": "T",
          "end": 917,
          "referenceAllele": "C",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "NM_000349.2:c.653C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000340.2:p.Ala218Val",
        "hgvsWellDefined": "NP_000340.2:p.Ala218Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1097,
          "endIntronDirection": "+",
          "endIntronOffset": 650,
          "referenceAllele": "C",
          "start": 1097,
          "startIntronDirection": "+",
          "startIntronOffset": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "XM_006716392.1:c.650+650C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716455.1:n.650+650C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071652"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094962",
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "referenceAllele": "C",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "NM_000349.3:c.653C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000340.2:p.Ala218Val",
        "hgvsWellDefined": "NP_000340.2:p.Ala218Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000276449.9:c.653C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000349.3:c.653C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000276449.3:p.Ala218Val"
          },
          "RefSeq": {
            "hgvs": "NP_000340.2:p.Ala218Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}