{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA402460631",
  "communityStandardTitle": [
    "NM_005359.6(SMAD4):c.479A>G (p.Asp160Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=469387[alleleid]",
        "alleleId": 469387,
        "preferredName": "NM_005359.6(SMAD4):c.479A>G (p.Asp160Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/460555",
        "RCV": [
          "RCV000557020",
          "RCV000996687",
          "RCV002341293",
          "RCV003999045"
        ],
        "variationId": 460555
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.48581175A>G?assembly=hg19",
        "id": "chr18:g.48581175A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.51054805A>G?assembly=hg38",
        "id": "chr18:g.51054805A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555685629",
        "rs": 1555685629
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-51054805-A-G?dataset=gnomad_r4",
        "id": "18-51054805-A-G",
        "variant": "18:51054805 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 51054805,
          "referenceAllele": "A",
          "start": 51054804
        }
      ],
      "hgvs": [
        "NC_000018.10:g.51054805A>G",
        "CM000680.2:g.51054805A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 48581175,
          "referenceAllele": "A",
          "start": 48581174
        }
      ],
      "hgvs": [
        "NC_000018.9:g.48581175A>G",
        "CM000680.1:g.48581175A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 46835173,
          "referenceAllele": "A",
          "start": 46835172
        }
      ],
      "hgvs": [
        "NC_000018.8:g.46835173A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 91766,
          "referenceAllele": "A",
          "start": 91765
        }
      ],
      "hgvs": [
        "NG_013013.2:g.91766A>G",
        "LRG_318:g.91766A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002660"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 744,
          "referenceAllele": "A",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000588860.6:c.479A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465878.2:p.Asp160Gly",
        "hgvsWellDefined": "ENSP00000465878.2:p.Asp160Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914337"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "referenceAllele": "A",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000589076.6:c.479A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466934.2:p.Asp160Gly",
        "hgvsWellDefined": "ENSP00000466934.2:p.Asp160Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914338"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1186,
          "referenceAllele": "A",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000589941.2:c.479A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465874.2:p.Asp160Gly",
        "hgvsWellDefined": "ENSP00000465874.2:p.Asp160Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914340"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 602,
          "referenceAllele": "A",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000590061.2:c.479A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464772.2:p.Asp160Gly",
        "hgvsWellDefined": "ENSP00000464772.2:p.Asp160Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914342"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1011,
          "referenceAllele": "A",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000593223.2:c.479A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466118.2:p.Asp160Gly",
        "hgvsWellDefined": "ENSP00000466118.2:p.Asp160Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 606,
          "referenceAllele": "A",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000611848.2:c.479A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478613.2:p.Asp160Gly",
        "hgvsWellDefined": "ENSP00000478613.2:p.Asp160Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826412"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1851,
          "referenceAllele": "A",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000684953.1:n.1851A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829809"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1017,
          "referenceAllele": "A",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000342988.8:c.479A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341551.3:p.Asp160Gly",
        "hgvsWellDefined": "ENSP00000341551.3:p.Asp160Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342988.8:c.479A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005359.6:c.479A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341551.3:p.Asp160Gly"
          },
          "RefSeq": {
            "hgvs": "NP_005350.1:p.Asp160Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1017,
          "referenceAllele": "A",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000342988.7:c.479A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341551.3:p.Asp160Gly",
        "hgvsWellDefined": "ENSP00000341551.3:p.Asp160Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261669"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 737,
          "referenceAllele": "A",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000398417.6:c.479A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381452.1:p.Asp160Gly",
        "hgvsWellDefined": "ENSP00000381452.1:p.Asp160Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278258"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 348,
          "referenceAllele": "A",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000585448.1:n.348A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 479,
          "referenceAllele": "A",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000588745.5:c.479A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464901.1:p.Asp160Gly",
        "hgvsWellDefined": "ENSP00000464901.1:p.Asp160Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "hgvs": [
        "ENST00000590722.2:c.*655A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465737.1:n.*655A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392392"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2480,
          "referenceAllele": "A",
          "start": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000591126.5:n.2480A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392668"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 479,
          "referenceAllele": "A",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000592186.5:c.479A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468611.1:p.Asp160Gly",
        "hgvsWellDefined": "ENSP00000468611.1:p.Asp160Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 257,
          "referenceAllele": "A",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000592911.5:n.257A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658673935",
      "coordinates": [
        {
          "allele": "G",
          "end": 1017,
          "referenceAllele": "A",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NM_005359.5:c.479A>G",
        "LRG_318t1:c.479A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005350.1:p.Asp160Gly",
        "hgvsWellDefined": "NP_005350.1:p.Asp160Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658673935",
      "coordinates": [
        {
          "allele": "G",
          "end": 1017,
          "referenceAllele": "A",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NM_005359.6:c.479A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005350.1:p.Asp160Gly",
        "hgvsWellDefined": "NP_005350.1:p.Asp160Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696402",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342988.8:c.479A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005359.6:c.479A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341551.3:p.Asp160Gly"
          },
          "RefSeq": {
            "hgvs": "NP_005350.1:p.Asp160Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}