{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401995413",
  "communityStandardTitle": [
    "NM_000529.2(MC2R):c.358A>C (p.Ser120Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.13885160T>G?assembly=hg19",
        "id": "chr18:g.13885160T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.13885161T>G?assembly=hg38",
        "id": "chr18:g.13885161T>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 13885161,
          "referenceAllele": "T",
          "start": 13885160
        }
      ],
      "hgvs": [
        "NC_000018.10:g.13885161T>G",
        "CM000680.2:g.13885161T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 13885160,
          "referenceAllele": "T",
          "start": 13885159
        }
      ],
      "hgvs": [
        "NC_000018.9:g.13885160T>G",
        "CM000680.1:g.13885160T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 13875160,
          "referenceAllele": "T",
          "start": 13875159
        }
      ],
      "hgvs": [
        "NC_000018.8:g.13875160T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 35376,
          "referenceAllele": "A",
          "start": 35375
        }
      ],
      "hgvs": [
        "NG_011819.1:g.35376A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002002"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 535,
          "referenceAllele": "A",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006930",
      "geneNCBI_id": 4158,
      "geneSymbol": "MC2R",
      "hgvs": [
        "ENST00000327606.4:c.358A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333821.2:p.Ser120Arg",
        "hgvsWellDefined": "ENSP00000333821.2:p.Ser120Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746852",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327606.4:c.358A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000529.2:c.358A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333821.2:p.Ser120Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000520.1:p.Ser120Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 539,
          "referenceAllele": "A",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006930",
      "geneNCBI_id": 4158,
      "geneSymbol": "MC2R",
      "hgvs": [
        "ENST00000327606.3:c.358A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333821.2:p.Ser120Arg",
        "hgvsWellDefined": "ENSP00000333821.2:p.Ser120Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258794"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 564,
          "referenceAllele": "A",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006930",
      "geneNCBI_id": 4158,
      "geneSymbol": "MC2R",
      "hgvs": [
        "ENST00000399821.2:c.358A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382718.2:p.Ser120Arg",
        "hgvsWellDefined": "ENSP00000382718.2:p.Ser120Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278817"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101419",
      "coordinates": [
        {
          "allele": "C",
          "end": 535,
          "referenceAllele": "A",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006930",
      "geneNCBI_id": 4158,
      "geneSymbol": "MC2R",
      "hgvs": [
        "NM_000529.2:c.358A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000520.1:p.Ser120Arg",
        "hgvsWellDefined": "NP_000520.1:p.Ser120Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006586",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327606.4:c.358A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000529.2:c.358A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333821.2:p.Ser120Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000520.1:p.Ser120Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916018322",
      "coordinates": [
        {
          "allele": "C",
          "end": 564,
          "referenceAllele": "A",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006930",
      "geneNCBI_id": 4158,
      "geneSymbol": "MC2R",
      "hgvs": [
        "NM_001291911.1:c.358A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278840.1:p.Ser120Arg",
        "hgvsWellDefined": "NP_001278840.1:p.Ser120Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1157,
          "referenceAllele": "A",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006930",
      "geneNCBI_id": 4158,
      "geneSymbol": "MC2R",
      "hgvs": [
        "XM_017025781.1:c.358A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881270.1:p.Ser120Arg",
        "hgvsWellDefined": "XP_016881270.1:p.Ser120Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576069"
    }
  ],
  "type": "nucleotide"
}