{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA120043",
  "communityStandardTitle": [
    "NM_000349.3(STAR):c.559G>A (p.Val187Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24035[alleleid]",
        "alleleId": 24035,
        "preferredName": "NM_000349.3(STAR):c.559G>A (p.Val187Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8996",
        "RCV": [
          "RCV000009559",
          "RCV000811531"
        ],
        "variationId": 8996
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.38003572C>T?assembly=hg19",
        "id": "chr8:g.38003572C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.38146054C>T?assembly=hg38",
        "id": "chr8:g.38146054C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894089",
        "rs": 104894089
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-38003572-C-T?dataset=gnomad_r2_1",
        "id": "8-38003572-C-T",
        "variant": "8:38003572 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-38146054-C-T?dataset=gnomad_r3",
        "id": "8-38146054-C-T",
        "variant": "8:38146054 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-38146054-C-T?dataset=gnomad_r4",
        "id": "8-38146054-C-T",
        "variant": "8:38146054 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 38146054,
          "referenceAllele": "C",
          "start": 38146053
        }
      ],
      "hgvs": [
        "NC_000008.11:g.38146054C>T",
        "CM000670.2:g.38146054C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 38003572,
          "referenceAllele": "C",
          "start": 38003571
        }
      ],
      "hgvs": [
        "NC_000008.10:g.38003572C>T",
        "CM000670.1:g.38003572C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 38122729,
          "referenceAllele": "C",
          "start": 38122728
        }
      ],
      "hgvs": [
        "NC_000008.9:g.38122729C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10029,
          "referenceAllele": "G",
          "start": 10028
        }
      ],
      "hgvs": [
        "NG_011827.1:g.10029G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002007"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 693,
          "referenceAllele": "G",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "ENST00000276449.9:c.559G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000276449.3:p.Val187Met",
        "hgvsWellDefined": "ENSP00000276449.3:p.Val187Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743427",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000276449.9:c.559G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000349.3:c.559G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000276449.3:p.Val187Met"
          },
          "RefSeq": {
            "hgvs": "NP_000340.2:p.Val187Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "ENST00000276449.8:c.559G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000276449.3:p.Val187Met",
        "hgvsWellDefined": "ENSP00000276449.3:p.Val187Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1046,
          "referenceAllele": "G",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "ENST00000520114.1:n.1046G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 495,
          "referenceAllele": "G",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "ENST00000522050.1:c.495G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS348742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA120044",
      "coordinates": [
        {
          "allele": "A",
          "end": 823,
          "referenceAllele": "G",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "NM_000349.2:c.559G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000340.2:p.Val187Met",
        "hgvsWellDefined": "NP_000340.2:p.Val187Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "XM_006716392.1:c.559G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716455.1:p.Val187Met",
        "hgvsWellDefined": "XP_006716455.1:p.Val187Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071652"
    },
    {
      "@id": "http://reg.genome.network/allele/PA120044",
      "coordinates": [
        {
          "allele": "A",
          "end": 693,
          "referenceAllele": "G",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "NM_000349.3:c.559G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000340.2:p.Val187Met",
        "hgvsWellDefined": "NP_000340.2:p.Val187Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000276449.9:c.559G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000349.3:c.559G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000276449.3:p.Val187Met"
          },
          "RefSeq": {
            "hgvs": "NP_000340.2:p.Val187Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}