{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8578205",
  "communityStandardTitle": [
    "NM_025233.7(COASY):c.1120A>G (p.Ile374Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2124997[alleleid]",
        "alleleId": 2124997,
        "preferredName": "NM_025233.7(COASY):c.1120A>G (p.Ile374Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2064885",
        "RCV": [
          "RCV002953764",
          "RCV004068037"
        ],
        "variationId": 2064885
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-40716799-A-G",
        "id": "17-40716799-A-G",
        "variant": "17:40716799 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.40716799A>G?assembly=hg19",
        "id": "chr17:g.40716799A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42564781A>G?assembly=hg38",
        "id": "chr17:g.42564781A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/747577673",
        "rs": 747577673
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-40716799-A-G?dataset=gnomad_r2_1",
        "id": "17-40716799-A-G",
        "variant": "17:40716799 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42564781-A-G?dataset=gnomad_r3",
        "id": "17-42564781-A-G",
        "variant": "17:42564781 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42564781-A-G?dataset=gnomad_r4",
        "id": "17-42564781-A-G",
        "variant": "17:42564781 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 42564781,
          "referenceAllele": "A",
          "start": 42564780
        }
      ],
      "hgvs": [
        "NC_000017.11:g.42564781A>G",
        "CM000679.2:g.42564781A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 40716799,
          "referenceAllele": "A",
          "start": 40716798
        }
      ],
      "hgvs": [
        "NC_000017.10:g.40716799A>G",
        "CM000679.1:g.40716799A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 37970325,
          "referenceAllele": "A",
          "start": 37970324
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37970325A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2722,
          "referenceAllele": "A",
          "start": 2721
        }
      ],
      "hgvs": [
        "NG_029442.1:g.2722A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004386"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7708,
          "referenceAllele": "A",
          "start": 7707
        }
      ],
      "hgvs": [
        "NG_034110.1:g.7708A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005746"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1595,
          "referenceAllele": "A",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "ENST00000393818.3:c.1120A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377406.1:p.Ile374Val",
        "hgvsWellDefined": "ENSP00000377406.1:p.Ile374Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393818.3:c.1120A>G"
          },
          "RefSeq": {
            "hgvs": "NM_025233.7:c.1120A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377406.1:p.Ile374Val"
          },
          "RefSeq": {
            "hgvs": "NP_079509.5:p.Ile374Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1576,
          "referenceAllele": "A",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "ENST00000393818.2:c.1120A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377406.1:p.Ile374Val",
        "hgvsWellDefined": "ENSP00000377406.1:p.Ile374Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275830"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1204,
          "referenceAllele": "A",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "ENST00000421097.6:c.1120A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393564.2:p.Ile374Val",
        "hgvsWellDefined": "ENSP00000393564.2:p.Ile374Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1332,
          "referenceAllele": "A",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "ENST00000590958.5:c.1207A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464814.1:p.Ile403Val",
        "hgvsWellDefined": "ENSP00000464814.1:p.Ile403Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392558"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1344,
          "referenceAllele": "A",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "ENST00000591753.1:n.1344A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393101"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 882,
          "referenceAllele": "A",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "ENST00000591779.5:c.235A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467687.1:p.Ile79Val",
        "hgvsWellDefined": "ENSP00000467687.1:p.Ile79Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393119"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825411264",
      "coordinates": [
        {
          "allele": "G",
          "end": 1277,
          "referenceAllele": "A",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "NM_001042529.2:c.1120A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035994.1:p.Ile374Val",
        "hgvsWellDefined": "NP_001035994.1:p.Ile374Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580145284",
      "coordinates": [
        {
          "allele": "G",
          "end": 1409,
          "referenceAllele": "A",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "NM_001042532.3:c.1207A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035997.2:p.Ile403Val",
        "hgvsWellDefined": "NP_001035997.2:p.Ile403Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830032391",
      "coordinates": [
        {
          "allele": "G",
          "end": 1669,
          "referenceAllele": "A",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "NM_025233.6:c.1120A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079509.5:p.Ile374Val",
        "hgvsWellDefined": "NP_079509.5:p.Ile374Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038291"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1299,
          "referenceAllele": "A",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "XM_006722116.2:c.1207A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722179.1:p.Ile403Val",
        "hgvsWellDefined": "XP_006722179.1:p.Ile403Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1473,
          "referenceAllele": "A",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "XM_011525300.1:c.1120A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523602.1:p.Ile374Val",
        "hgvsWellDefined": "XP_011523602.1:p.Ile374Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1613,
          "referenceAllele": "A",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "XM_011525301.1:c.1120A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523603.1:p.Ile374Val",
        "hgvsWellDefined": "XP_011523603.1:p.Ile374Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1540,
          "endIntronDirection": "-",
          "endIntronOffset": 201,
          "referenceAllele": "A",
          "start": 1540,
          "startIntronDirection": "-",
          "startIntronOffset": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "XR_429926.1:n.1541-202A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1407,
          "referenceAllele": "A",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "XM_006722116.4:c.1207A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722179.1:p.Ile403Val",
        "hgvsWellDefined": "XP_006722179.1:p.Ile403Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540469"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1459,
          "referenceAllele": "A",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "XM_011525300.2:c.1120A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523602.1:p.Ile374Val",
        "hgvsWellDefined": "XP_011523602.1:p.Ile374Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547827"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830032391",
      "coordinates": [
        {
          "allele": "G",
          "end": 1595,
          "referenceAllele": "A",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "NM_025233.7:c.1120A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079509.5:p.Ile374Val",
        "hgvsWellDefined": "NP_079509.5:p.Ile374Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670946",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393818.3:c.1120A>G"
          },
          "RefSeq": {
            "hgvs": "NM_025233.7:c.1120A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377406.1:p.Ile374Val"
          },
          "RefSeq": {
            "hgvs": "NP_079509.5:p.Ile374Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825411264",
      "coordinates": [
        {
          "allele": "G",
          "end": 1203,
          "referenceAllele": "A",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "NM_001042529.3:c.1120A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035994.1:p.Ile374Val",
        "hgvsWellDefined": "NP_001035994.1:p.Ile374Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580145284",
      "coordinates": [
        {
          "allele": "G",
          "end": 1335,
          "referenceAllele": "A",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "NM_001042532.4:c.1207A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035997.2:p.Ile403Val",
        "hgvsWellDefined": "NP_001035997.2:p.Ile403Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676049"
    }
  ],
  "type": "nucleotide"
}