{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA497380805",
  "communityStandardTitle": [
    "NM_002386.4(MC1R):c.478C>A (p.Arg160=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89986144C>A?assembly=hg19",
        "id": "chr16:g.89986144C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1805008",
        "rs": 1805008
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89919736-C-A?dataset=gnomad_r4",
        "id": "16-89919736-C-A",
        "variant": "16:89919736 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 89919736,
          "referenceAllele": "C",
          "start": 89919735
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89919736C>A",
        "CM000678.2:g.89919736C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 89986144,
          "referenceAllele": "C",
          "start": 89986143
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89986144C>A",
        "CM000678.1:g.89986144C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 88513645,
          "referenceAllele": "C",
          "start": 88513644
        }
      ],
      "hgvs": [
        "NC_000016.8:g.88513645C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6858,
          "referenceAllele": "C",
          "start": 6857
        }
      ],
      "hgvs": [
        "NG_012026.1:g.6858C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002114"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2728,
          "referenceAllele": "C",
          "start": 2727
        }
      ],
      "hgvs": [
        "NG_027810.1:g.2728C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003975"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 875,
          "referenceAllele": "C",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006929",
      "geneNCBI_id": 4157,
      "geneSymbol": "MC1R",
      "hgvs": [
        "ENST00000555147.2:c.478C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451605.1:p.Arg160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760119",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000555147.2:c.478C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002386.4:c.478C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000451605.1:p.Arg160="
          },
          "RefSeq": {
            "hgvs": "NP_002377.4:p.Arg160="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1352,
          "referenceAllele": "C",
          "start": 1351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006929",
      "geneNCBI_id": 4157,
      "geneSymbol": "MC1R",
      "hgvs": [
        "ENST00000639847.1:c.478C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492011.1:p.Arg160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1858,
          "referenceAllele": "C",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006929",
      "geneNCBI_id": 4157,
      "geneSymbol": "MC1R",
      "hgvs": [
        "ENST00000555147.1:c.478C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451605.1:p.Arg160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371203"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2781,
          "referenceAllele": "C",
          "start": 2780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006929",
      "geneNCBI_id": 4157,
      "geneSymbol": "MC1R",
      "hgvs": [
        "ENST00000555427.1:c.478C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451760.1:p.Arg160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371426"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 572,
          "referenceAllele": "C",
          "start": 571
        }
      ],
      "hgvs": [
        "ENST00000556922.1:c.478C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451560.1:p.Arg160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372602"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829350639",
      "coordinates": [
        {
          "allele": "A",
          "end": 1858,
          "referenceAllele": "C",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006929",
      "geneNCBI_id": 4157,
      "geneSymbol": "MC1R",
      "hgvs": [
        "NM_002386.3:c.478C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002377.4:p.Arg160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027692"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829350639",
      "coordinates": [
        {
          "allele": "A",
          "end": 875,
          "referenceAllele": "C",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006929",
      "geneNCBI_id": 4157,
      "geneSymbol": "MC1R",
      "hgvs": [
        "NM_002386.4:c.478C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002377.4:p.Arg160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695529",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000555147.2:c.478C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002386.4:c.478C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000451605.1:p.Arg160="
          },
          "RefSeq": {
            "hgvs": "NP_002377.4:p.Arg160="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}