{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397560134",
  "communityStandardTitle": [
    "NM_002945.5(RPA1):c.808A>G (p.Thr270Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1317618[alleleid]",
        "alleleId": 1317618,
        "preferredName": "NM_002945.5(RPA1):c.808A>G (p.Thr270Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1327121",
        "RCV": [
          "RCV001787404",
          "RCV001843378"
        ],
        "variationId": 1327121
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.1782557A>G?assembly=hg19",
        "id": "chr17:g.1782557A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.1879263A>G?assembly=hg38",
        "id": "chr17:g.1879263A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2151286956",
        "rs": 2151286956
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 1879263,
          "referenceAllele": "A",
          "start": 1879262
        }
      ],
      "hgvs": [
        "NC_000017.11:g.1879263A>G",
        "CM000679.2:g.1879263A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 1782557,
          "referenceAllele": "A",
          "start": 1782556
        }
      ],
      "hgvs": [
        "NC_000017.10:g.1782557A>G",
        "CM000679.1:g.1782557A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 1729307,
          "referenceAllele": "A",
          "start": 1729306
        }
      ],
      "hgvs": [
        "NC_000017.9:g.1729307A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 897,
          "referenceAllele": "A",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010289",
      "geneNCBI_id": 6117,
      "geneSymbol": "RPA1",
      "hgvs": [
        "ENST00000254719.10:c.808A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254719.4:p.Thr270Ala",
        "hgvsWellDefined": "ENSP00000254719.4:p.Thr270Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741673",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254719.10:c.808A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002945.5:c.808A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254719.4:p.Thr270Ala"
          },
          "RefSeq": {
            "hgvs": "NP_002936.1:p.Thr270Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 918,
          "referenceAllele": "A",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010289",
      "geneNCBI_id": 6117,
      "geneSymbol": "RPA1",
      "hgvs": [
        "ENST00000254719.9:c.808A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254719.4:p.Thr270Ala",
        "hgvsWellDefined": "ENSP00000254719.4:p.Thr270Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250031"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 532,
          "referenceAllele": "A",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010289",
      "geneNCBI_id": 6117,
      "geneSymbol": "RPA1",
      "hgvs": [
        "ENST00000573924.1:n.532A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383482"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 76,
          "referenceAllele": "A",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010289",
      "geneNCBI_id": 6117,
      "geneSymbol": "RPA1",
      "hgvs": [
        "ENST00000574049.1:c.76A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461466.1:p.Thr26Ala",
        "hgvsWellDefined": "ENSP00000461466.1:p.Thr26Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383529"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573082311",
      "coordinates": [
        {
          "allele": "G",
          "end": 923,
          "referenceAllele": "A",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010289",
      "geneNCBI_id": 6117,
      "geneSymbol": "RPA1",
      "hgvs": [
        "NM_002945.3:c.808A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002936.1:p.Thr270Ala",
        "hgvsWellDefined": "NP_002936.1:p.Thr270Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028229"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828045335",
      "coordinates": [
        {
          "allele": "G",
          "end": 939,
          "referenceAllele": "A",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010289",
      "geneNCBI_id": 6117,
      "geneSymbol": "RPA1",
      "hgvs": [
        "NM_001355120.1:c.769A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001342049.1:p.Thr257Ala",
        "hgvsWellDefined": "NP_001342049.1:p.Thr257Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522835"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828045387",
      "coordinates": [
        {
          "allele": "G",
          "end": 931,
          "referenceAllele": "A",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010289",
      "geneNCBI_id": 6117,
      "geneSymbol": "RPA1",
      "hgvs": [
        "NM_001355121.1:c.808A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001342050.1:p.Thr270Ala",
        "hgvsWellDefined": "NP_001342050.1:p.Thr270Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522836"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573082311",
      "coordinates": [
        {
          "allele": "G",
          "end": 931,
          "referenceAllele": "A",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010289",
      "geneNCBI_id": 6117,
      "geneSymbol": "RPA1",
      "hgvs": [
        "NM_002945.4:c.808A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002936.1:p.Thr270Ala",
        "hgvsWellDefined": "NP_002936.1:p.Thr270Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1459,
          "referenceAllele": "A",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010289",
      "geneNCBI_id": 6117,
      "geneSymbol": "RPA1",
      "hgvs": [
        "XM_024450863.1:c.814A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306631.1:p.Thr272Ala",
        "hgvsWellDefined": "XP_024306631.1:p.Thr272Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584392"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828045335",
      "coordinates": [
        {
          "allele": "G",
          "end": 905,
          "referenceAllele": "A",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010289",
      "geneNCBI_id": 6117,
      "geneSymbol": "RPA1",
      "hgvs": [
        "NM_001355120.2:c.769A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001342049.1:p.Thr257Ala",
        "hgvsWellDefined": "NP_001342049.1:p.Thr257Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690420"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828045387",
      "coordinates": [
        {
          "allele": "G",
          "end": 897,
          "referenceAllele": "A",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010289",
      "geneNCBI_id": 6117,
      "geneSymbol": "RPA1",
      "hgvs": [
        "NM_001355121.2:c.808A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001342050.1:p.Thr270Ala",
        "hgvsWellDefined": "NP_001342050.1:p.Thr270Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690421"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573082311",
      "coordinates": [
        {
          "allele": "G",
          "end": 897,
          "referenceAllele": "A",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010289",
      "geneNCBI_id": 6117,
      "geneSymbol": "RPA1",
      "hgvs": [
        "NM_002945.5:c.808A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002936.1:p.Thr270Ala",
        "hgvsWellDefined": "NP_002936.1:p.Thr270Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695687",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254719.10:c.808A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002945.5:c.808A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254719.4:p.Thr270Ala"
          },
          "RefSeq": {
            "hgvs": "NP_002936.1:p.Thr270Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}