{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA365653617",
  "communityStandardTitle": [
    "NM_000045.4(ARG1):c.869C>T (p.Thr290Ile)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.131904948C>T?assembly=hg19",
        "id": "chr6:g.131904948C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.131583808C>T?assembly=hg38",
        "id": "chr6:g.131583808C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893942",
        "rs": 104893942
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-131583808-C-T?dataset=gnomad_r4",
        "id": "6-131583808-C-T",
        "variant": "6:131583808 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 131583808,
          "referenceAllele": "C",
          "start": 131583807
        }
      ],
      "hgvs": [
        "NC_000006.12:g.131583808C>T",
        "CM000668.2:g.131583808C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 131904948,
          "referenceAllele": "C",
          "start": 131904947
        }
      ],
      "hgvs": [
        "NC_000006.11:g.131904948C>T",
        "CM000668.1:g.131904948C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 131946641,
          "referenceAllele": "C",
          "start": 131946640
        }
      ],
      "hgvs": [
        "NC_000006.10:g.131946641C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15584,
          "referenceAllele": "C",
          "start": 15583
        }
      ],
      "hgvs": [
        "NG_007086.2:g.15584C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000466"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 49416,
          "referenceAllele": "G",
          "start": 49415
        }
      ],
      "hgvs": [
        "NG_031860.1:g.49416G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 49416,
          "referenceAllele": "G",
          "start": 49415
        }
      ],
      "hgvs": [
        "NG_031860.2:g.49416G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673851"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 926,
          "referenceAllele": "C",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "ENST00000368087.8:c.869C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357066.3:p.Thr290Ile",
        "hgvsWellDefined": "ENSP00000357066.3:p.Thr290Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750140",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368087.8:c.869C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000045.4:c.869C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357066.3:p.Thr290Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000036.2:p.Thr290Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "referenceAllele": "C",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "ENST00000640973.1:c.611C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492623.1:p.Thr204Ile",
        "hgvsWellDefined": "ENSP00000492623.1:p.Thr204Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765757"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 889,
          "referenceAllele": "C",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "ENST00000672233.1:c.815C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499826.1:p.Thr272Ile",
        "hgvsWellDefined": "ENSP00000499826.1:p.Thr272Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773313"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1009,
          "referenceAllele": "C",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "ENST00000673234.1:c.*756C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499885.1:n.*756C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 668,
          "referenceAllele": "C",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "ENST00000673427.1:c.614C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500160.1:p.Thr205Ile",
        "hgvsWellDefined": "ENSP00000500160.1:p.Thr205Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773675"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4251,
          "endIntronDirection": "+",
          "endIntronOffset": 3901,
          "referenceAllele": "G",
          "start": 4251,
          "startIntronDirection": "+",
          "startIntronOffset": 3900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "ENST00000354577.8:c.4095+3901G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346588.4:n.4095+3901G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 951,
          "referenceAllele": "C",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "ENST00000356962.2:c.893C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349446.2:p.Thr298Ile",
        "hgvsWellDefined": "ENSP00000349446.2:p.Thr298Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263936"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1008,
          "referenceAllele": "C",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "ENST00000368087.7:c.869C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357066.3:p.Thr290Ile",
        "hgvsWellDefined": "ENSP00000357066.3:p.Thr290Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266757"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072144661",
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "NM_000045.3:c.869C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000036.2:p.Thr290Ile",
        "hgvsWellDefined": "NP_000036.2:p.Thr290Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 972,
          "referenceAllele": "C",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "NM_001244438.1:c.893C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001231367.1:p.Thr298Ile",
        "hgvsWellDefined": "NP_001231367.1:p.Thr298Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018678"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4267,
          "endIntronDirection": "+",
          "endIntronOffset": 3901,
          "referenceAllele": "G",
          "start": 4267,
          "startIntronDirection": "+",
          "startIntronOffset": 3900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_001270521.1:c.4077+3901G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257450.1:n.4077+3901G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020343"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4285,
          "endIntronDirection": "+",
          "endIntronOffset": 3901,
          "referenceAllele": "G",
          "start": 4285,
          "startIntronDirection": "+",
          "startIntronOffset": 3900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_015979.3:c.4095+3901G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057063.2:n.4095+3901G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "XM_011535801.1:c.614C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534103.1:p.Thr205Ile",
        "hgvsWellDefined": "XP_011534103.1:p.Thr205Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102803"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 738,
          "referenceAllele": "C",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "XM_011535801.2:c.614C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534103.1:p.Thr205Ile",
        "hgvsWellDefined": "XP_011534103.1:p.Thr205Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552190"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072144661",
      "coordinates": [
        {
          "allele": "T",
          "end": 926,
          "referenceAllele": "C",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "NM_000045.4:c.869C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000036.2:p.Thr290Ile",
        "hgvsWellDefined": "NP_000036.2:p.Thr290Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674675",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368087.8:c.869C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000045.4:c.869C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357066.3:p.Thr290Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000036.2:p.Thr290Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 950,
          "referenceAllele": "C",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "NM_001244438.2:c.893C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001231367.1:p.Thr298Ile",
        "hgvsWellDefined": "NP_001231367.1:p.Thr298Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4270,
          "endIntronDirection": "+",
          "endIntronOffset": 3901,
          "referenceAllele": "G",
          "start": 4270,
          "startIntronDirection": "+",
          "startIntronOffset": 3900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_001270521.2:c.4077+3901G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257450.1:n.4077+3901G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 671,
          "referenceAllele": "C",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "NM_001369020.1:c.614C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355949.1:p.Thr205Ile",
        "hgvsWellDefined": "NP_001355949.1:p.Thr205Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4288,
          "endIntronDirection": "+",
          "endIntronOffset": 3901,
          "referenceAllele": "G",
          "start": 4288,
          "startIntronDirection": "+",
          "startIntronOffset": 3900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_015979.4:c.4095+3901G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057063.2:n.4095+3901G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "NR_160934.1:n.853C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705240"
    }
  ],
  "type": "nucleotide"
}