{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10642711",
  "communityStandardTitle": [
    "NC_000013.11:g.102845848A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=333317[alleleid]",
        "alleleId": 333317,
        "preferredName": "NM_000123.3(ERCC5):c.-419A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/310903",
        "RCV": [
          "RCV000392824",
          "RCV001653522"
        ],
        "variationId": 310903
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.103498198A>G?assembly=hg19",
        "id": "chr13:g.103498198A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.102845848A>G?assembly=hg38",
        "id": "chr13:g.102845848A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/751402",
        "rs": 751402
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-103498198-A-G?dataset=gnomad_r2_1",
        "id": "13-103498198-A-G",
        "variant": "13:103498198 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-102845848-A-G?dataset=gnomad_r3",
        "id": "13-102845848-A-G",
        "variant": "13:102845848 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-102845848-A-G?dataset=gnomad_r4",
        "id": "13-102845848-A-G",
        "variant": "13:102845848 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 102845848,
          "referenceAllele": "A",
          "start": 102845847
        }
      ],
      "hgvs": [
        "NC_000013.11:g.102845848A>G",
        "CM000675.2:g.102845848A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 103498198,
          "referenceAllele": "A",
          "start": 103498197
        }
      ],
      "hgvs": [
        "NC_000013.10:g.103498198A>G",
        "CM000675.1:g.103498198A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 102296199,
          "referenceAllele": "A",
          "start": 102296198
        }
      ],
      "hgvs": [
        "NC_000013.9:g.102296199A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5025,
          "referenceAllele": "A",
          "start": 5024
        }
      ],
      "hgvs": [
        "NG_007146.1:g.5025A>G",
        "LRG_464:g.5025A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000499"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 362,
          "endIntronDirection": "-",
          "endIntronOffset": 7908,
          "referenceAllele": "A",
          "start": 362,
          "startIntronDirection": "-",
          "startIntronOffset": 7909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "ENST00000638434.1:c.363-7909A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764527"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 362,
          "endIntronDirection": "-",
          "endIntronOffset": 3269,
          "referenceAllele": "A",
          "start": 362,
          "startIntronDirection": "-",
          "startIntronOffset": 3270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "ENST00000639118.1:c.363-3270A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764875"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1634,
          "endIntronDirection": "+",
          "endIntronOffset": 6045,
          "referenceAllele": "A",
          "start": 1634,
          "startIntronDirection": "+",
          "startIntronOffset": 6044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "ENST00000639132.1:c.763+6045A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492684.1:n.763+6045A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764881"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2068,
          "endIntronDirection": "+",
          "endIntronOffset": 6045,
          "referenceAllele": "A",
          "start": 2068,
          "startIntronDirection": "+",
          "startIntronOffset": 6044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "ENST00000639435.1:c.1450+6045A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491742.1:n.1450+6045A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765025"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 18,
          "referenceAllele": "A",
          "start": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000651002.1:c.-419A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498809.1:n.-419A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1005,
          "referenceAllele": "A",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000355739.8:c.-419A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347978.4:n.-419A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8,
          "referenceAllele": "A",
          "start": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000535557.5:c.-419A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442117.1:n.-419A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359798"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1364,
          "endIntronDirection": "+",
          "endIntronOffset": 6045,
          "referenceAllele": "A",
          "start": 1364,
          "startIntronDirection": "+",
          "startIntronOffset": 6044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "ENST00000602836.1:c.1364+6045A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS398366"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8,
          "referenceAllele": "A",
          "start": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "NM_000123.3:c.-419A>G",
        "LRG_464t1:c.-419A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000114.2:n.-419A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006185"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1572,
          "endIntronDirection": "+",
          "endIntronOffset": 6045,
          "referenceAllele": "A",
          "start": 1572,
          "startIntronDirection": "+",
          "startIntronOffset": 6044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "NM_001204425.1:c.1450+6045A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191354.1:n.1450+6045A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017655"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1572,
          "endIntronDirection": "+",
          "endIntronOffset": 6045,
          "referenceAllele": "A",
          "start": 1572,
          "startIntronDirection": "+",
          "startIntronOffset": 6044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "NM_001204425.2:c.1450+6045A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191354.2:n.1450+6045A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679846"
    }
  ],
  "type": "nucleotide"
}