{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393202564",
  "communityStandardTitle": [
    "NM_005585.5(SMAD6):c.1451G>A (p.Cys484Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=445406[alleleid]",
        "alleleId": 445406,
        "preferredName": "NM_005585.5(SMAD6):c.1451G>A (p.Cys484Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/449626",
        "RCV": [
          "RCV000520660"
        ],
        "variationId": 449626
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.67073833G>A?assembly=hg19",
        "id": "chr15:g.67073833G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.66781495G>A?assembly=hg38",
        "id": "chr15:g.66781495G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387907283",
        "rs": 387907283
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-66781495-G-A?dataset=gnomad_r3",
        "id": "15-66781495-G-A",
        "variant": "15:66781495 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-66781495-G-A?dataset=gnomad_r4",
        "id": "15-66781495-G-A",
        "variant": "15:66781495 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 66781495,
          "referenceAllele": "G",
          "start": 66781494
        }
      ],
      "hgvs": [
        "NC_000015.10:g.66781495G>A",
        "CM000677.2:g.66781495G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 67073833,
          "referenceAllele": "G",
          "start": 67073832
        }
      ],
      "hgvs": [
        "NC_000015.9:g.67073833G>A",
        "CM000677.1:g.67073833G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 64860887,
          "referenceAllele": "G",
          "start": 64860886
        }
      ],
      "hgvs": [
        "NC_000015.8:g.64860887G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 84160,
          "referenceAllele": "G",
          "start": 84159
        }
      ],
      "hgvs": [
        "NG_012244.1:g.84160G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 84160,
          "referenceAllele": "G",
          "start": 84159
        }
      ],
      "hgvs": [
        "NG_012244.2:g.84160G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673590"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2474,
          "referenceAllele": "G",
          "start": 2473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006772",
      "geneNCBI_id": 4091,
      "geneSymbol": "SMAD6",
      "hgvs": [
        "ENST00000288840.10:c.1451G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288840.5:p.Cys484Tyr",
        "hgvsWellDefined": "ENSP00000288840.5:p.Cys484Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743960",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288840.10:c.1451G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005585.5:c.1451G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288840.5:p.Cys484Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_005576.3:p.Cys484Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2482,
          "referenceAllele": "G",
          "start": 2481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006772",
      "geneNCBI_id": 4091,
      "geneSymbol": "SMAD6",
      "hgvs": [
        "ENST00000288840.9:c.1451G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288840.5:p.Cys484Tyr",
        "hgvsWellDefined": "ENSP00000288840.5:p.Cys484Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253540"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658660246",
      "coordinates": [
        {
          "allele": "A",
          "end": 2374,
          "referenceAllele": "G",
          "start": 2373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006772",
      "geneNCBI_id": 4091,
      "geneSymbol": "SMAD6",
      "hgvs": [
        "NM_005585.4:c.1451G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005576.3:p.Cys484Tyr",
        "hgvsWellDefined": "NP_005576.3:p.Cys484Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2506,
          "referenceAllele": "G",
          "start": 2505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006772",
      "geneNCBI_id": 4091,
      "geneSymbol": "SMAD6",
      "hgvs": [
        "NR_027654.1:n.2506G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 781,
          "referenceAllele": "G",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006772",
      "geneNCBI_id": 4091,
      "geneSymbol": "SMAD6",
      "hgvs": [
        "XM_011521561.1:c.668G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519863.1:p.Cys223Tyr",
        "hgvsWellDefined": "XP_011519863.1:p.Cys223Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5285,
          "referenceAllele": "G",
          "start": 5284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006772",
      "geneNCBI_id": 4091,
      "geneSymbol": "SMAD6",
      "hgvs": [
        "XM_011521561.2:c.668G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519863.1:p.Cys223Tyr",
        "hgvsWellDefined": "XP_011519863.1:p.Cys223Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658660246",
      "coordinates": [
        {
          "allele": "A",
          "end": 2474,
          "referenceAllele": "G",
          "start": 2473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006772",
      "geneNCBI_id": 4091,
      "geneSymbol": "SMAD6",
      "hgvs": [
        "NM_005585.5:c.1451G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005576.3:p.Cys484Tyr",
        "hgvsWellDefined": "NP_005576.3:p.Cys484Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667042",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288840.10:c.1451G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005585.5:c.1451G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288840.5:p.Cys484Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_005576.3:p.Cys484Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2606,
          "referenceAllele": "G",
          "start": 2605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006772",
      "geneNCBI_id": 4091,
      "geneSymbol": "SMAD6",
      "hgvs": [
        "NR_027654.2:n.2606G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701966"
    }
  ],
  "type": "nucleotide"
}