{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1664135424",
  "communityStandardTitle": [
    "NM_000045.4(ARG1):c.413G= (p.Gly138=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893943",
        "rs": 104893943
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 131581326,
          "referenceAllele": "G",
          "start": 131581325
        }
      ],
      "hgvs": [
        "NC_000006.12:g.131581326G=",
        "CM000668.2:g.131581326G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 131902466,
          "referenceAllele": "G",
          "start": 131902465
        }
      ],
      "hgvs": [
        "NC_000006.11:g.131902466G=",
        "CM000668.1:g.131902466G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 131944159,
          "referenceAllele": "G",
          "start": 131944158
        }
      ],
      "hgvs": [
        "NC_000006.10:g.131944159G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13102,
          "referenceAllele": "G",
          "start": 13101
        }
      ],
      "hgvs": [
        "NG_007086.2:g.13102G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000466"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 51898,
          "referenceAllele": "C",
          "start": 51897
        }
      ],
      "hgvs": [
        "NG_031860.1:g.51898C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 51898,
          "referenceAllele": "C",
          "start": 51897
        }
      ],
      "hgvs": [
        "NG_031860.2:g.51898C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673851"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 470,
          "referenceAllele": "G",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "ENST00000368087.8:c.413G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357066.3:p.Gly138="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750140",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368087.8:c.413G="
          },
          "RefSeq": {
            "hgvs": "NM_000045.4:c.413G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357066.3:p.Gly138="
          },
          "RefSeq": {
            "hgvs": "NP_000036.2:p.Gly138="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 413,
          "referenceAllele": "G",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "ENST00000640973.1:c.413G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492623.1:p.Gly138="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765757"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 433,
          "referenceAllele": "G",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "ENST00000672233.1:c.359G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499826.1:p.Gly120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773313"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 553,
          "referenceAllele": "G",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "ENST00000673234.1:c.*300G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499885.1:n.*300G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 359,
          "endIntronDirection": "-",
          "endIntronOffset": 1733,
          "referenceAllele": "G",
          "start": 359,
          "startIntronDirection": "-",
          "startIntronOffset": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "ENST00000673427.1:c.306-1734G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500160.1:n.306-1734G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 397,
          "referenceAllele": "G",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "ENST00000275196.5:n.397G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS252603"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4251,
          "endIntronDirection": "+",
          "endIntronOffset": 6383,
          "referenceAllele": "C",
          "start": 4251,
          "startIntronDirection": "+",
          "startIntronOffset": 6382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "ENST00000354577.8:c.4095+6383C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346588.4:n.4095+6383C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263173"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 495,
          "referenceAllele": "G",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "ENST00000356962.2:c.437G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349446.2:p.Gly146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 552,
          "referenceAllele": "G",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "ENST00000368087.7:c.413G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357066.3:p.Gly138="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266757"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072144659",
      "coordinates": [
        {
          "allele": "G",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "NM_000045.3:c.413G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000036.2:p.Gly138="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006110"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 516,
          "referenceAllele": "G",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "NM_001244438.1:c.437G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001231367.1:p.Gly146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4267,
          "endIntronDirection": "+",
          "endIntronOffset": 6383,
          "referenceAllele": "C",
          "start": 4267,
          "startIntronDirection": "+",
          "startIntronOffset": 6382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_001270521.1:c.4077+6383C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001257450.1:n.4077+6383C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020343"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4285,
          "endIntronDirection": "+",
          "endIntronOffset": 6383,
          "referenceAllele": "C",
          "start": 4285,
          "startIntronDirection": "+",
          "startIntronOffset": 6382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_015979.3:c.4095+6383C="
      ],
      "proteinEffect": {
        "hgvs": "NP_057063.2:n.4095+6383C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034336"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 385,
          "endIntronDirection": "-",
          "endIntronOffset": 1733,
          "referenceAllele": "G",
          "start": 385,
          "startIntronDirection": "-",
          "startIntronOffset": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "XM_011535801.1:c.306-1734G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534103.1:n.306-1734G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102803"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 429,
          "endIntronDirection": "-",
          "endIntronOffset": 1733,
          "referenceAllele": "G",
          "start": 429,
          "startIntronDirection": "-",
          "startIntronOffset": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "XM_011535801.2:c.306-1734G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534103.1:n.306-1734G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552190"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072144659",
      "coordinates": [
        {
          "allele": "G",
          "end": 470,
          "referenceAllele": "G",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "NM_000045.4:c.413G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000036.2:p.Gly138="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674675",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368087.8:c.413G="
          },
          "RefSeq": {
            "hgvs": "NM_000045.4:c.413G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357066.3:p.Gly138="
          },
          "RefSeq": {
            "hgvs": "NP_000036.2:p.Gly138="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 494,
          "referenceAllele": "G",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "NM_001244438.2:c.437G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001231367.1:p.Gly146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680299"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4270,
          "endIntronDirection": "+",
          "endIntronOffset": 6383,
          "referenceAllele": "C",
          "start": 4270,
          "startIntronDirection": "+",
          "startIntronOffset": 6382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_001270521.2:c.4077+6383C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001257450.1:n.4077+6383C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681041"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 362,
          "endIntronDirection": "-",
          "endIntronOffset": 1733,
          "referenceAllele": "G",
          "start": 362,
          "startIntronDirection": "-",
          "startIntronOffset": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "NM_001369020.1:c.306-1734G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001355949.1:n.306-1734G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691511"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4288,
          "endIntronDirection": "+",
          "endIntronOffset": 6383,
          "referenceAllele": "C",
          "start": 4288,
          "startIntronDirection": "+",
          "startIntronOffset": 6382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_015979.4:c.4095+6383C="
      ],
      "proteinEffect": {
        "hgvs": "NP_057063.2:n.4095+6383C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697639"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 397,
          "referenceAllele": "G",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "NR_160934.1:n.397G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705240"
    }
  ],
  "type": "nucleotide"
}