{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16604608",
  "communityStandardTitle": [
    "NM_000094.4(COL7A1):c.5291G>C (p.Gly1764Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=367609[alleleid]",
        "alleleId": 367609,
        "preferredName": "NM_000094.4(COL7A1):c.5291G>C (p.Gly1764Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/379309",
        "RCV": [
          "RCV000424969"
        ],
        "variationId": 379309
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.48616818C>G?assembly=hg19",
        "id": "chr3:g.48616818C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.48579385C>G?assembly=hg38",
        "id": "chr3:g.48579385C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057520568",
        "rs": 1057520568
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-48579385-C-G?dataset=gnomad_r3",
        "id": "3-48579385-C-G",
        "variant": "3:48579385 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-48579385-C-G?dataset=gnomad_r4",
        "id": "3-48579385-C-G",
        "variant": "3:48579385 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 48579385,
          "referenceAllele": "C",
          "start": 48579384
        }
      ],
      "hgvs": [
        "NC_000003.12:g.48579385C>G",
        "CM000665.2:g.48579385C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 48616818,
          "referenceAllele": "C",
          "start": 48616817
        }
      ],
      "hgvs": [
        "NC_000003.11:g.48616818C>G",
        "CM000665.1:g.48616818C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 48591822,
          "referenceAllele": "C",
          "start": 48591821
        }
      ],
      "hgvs": [
        "NC_000003.10:g.48591822C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 20868,
          "referenceAllele": "G",
          "start": 20867
        }
      ],
      "hgvs": [
        "NG_007065.1:g.20868G>C",
        "LRG_286:g.20868G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000445"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5354,
          "referenceAllele": "G",
          "start": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "ENST00000681320.1:c.5291G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506558.1:p.Gly1764Ala",
        "hgvsWellDefined": "ENSP00000506558.1:p.Gly1764Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780930",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000681320.1:c.5291G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000094.4:c.5291G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000506558.1:p.Gly1764Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000085.1:p.Gly1764Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5399,
          "referenceAllele": "G",
          "start": 5398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "ENST00000328333.12:c.5291G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332371.8:p.Gly1764Ala",
        "hgvsWellDefined": "ENSP00000332371.8:p.Gly1764Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258901"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1208,
          "referenceAllele": "G",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "ENST00000487017.5:n.1208G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645380898",
      "coordinates": [
        {
          "allele": "C",
          "end": 5292,
          "referenceAllele": "G",
          "start": 5291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "NM_000094.3:c.5291G>C",
        "LRG_286t1:c.5291G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000085.1:p.Gly1764Ala",
        "hgvsWellDefined": "NP_000085.1:p.Gly1764Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5354,
          "referenceAllele": "G",
          "start": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_011533336.1:c.5318G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531638.1:p.Gly1773Ala",
        "hgvsWellDefined": "XP_011531638.1:p.Gly1773Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100359"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5327,
          "referenceAllele": "G",
          "start": 5326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_011533337.1:c.5291G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531639.1:p.Gly1764Ala",
        "hgvsWellDefined": "XP_011531639.1:p.Gly1764Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100360"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5354,
          "referenceAllele": "G",
          "start": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_011533338.1:c.5318G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531640.1:p.Gly1773Ala",
        "hgvsWellDefined": "XP_011531640.1:p.Gly1773Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100361"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5354,
          "referenceAllele": "G",
          "start": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_011533339.1:c.5318G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531641.1:p.Gly1773Ala",
        "hgvsWellDefined": "XP_011531641.1:p.Gly1773Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100362"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5354,
          "referenceAllele": "G",
          "start": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_011533340.1:c.5318G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531642.1:p.Gly1773Ala",
        "hgvsWellDefined": "XP_011531642.1:p.Gly1773Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100363"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5354,
          "referenceAllele": "G",
          "start": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_011533341.1:c.5318G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531643.1:p.Gly1773Ala",
        "hgvsWellDefined": "XP_011531643.1:p.Gly1773Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100364"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5354,
          "referenceAllele": "G",
          "start": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_011533342.1:c.5318G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531644.1:p.Gly1773Ala",
        "hgvsWellDefined": "XP_011531644.1:p.Gly1773Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100365"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5354,
          "referenceAllele": "G",
          "start": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_940369.1:n.5354G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135065"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5354,
          "referenceAllele": "G",
          "start": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_940370.1:n.5354G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5354,
          "referenceAllele": "G",
          "start": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_940371.1:n.5354G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135067"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5354,
          "referenceAllele": "G",
          "start": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_940372.1:n.5354G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135068"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5354,
          "referenceAllele": "G",
          "start": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_940373.1:n.5354G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5354,
          "referenceAllele": "G",
          "start": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_940374.1:n.5354G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5354,
          "referenceAllele": "G",
          "start": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_940375.1:n.5354G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5327,
          "referenceAllele": "G",
          "start": 5326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_017005688.1:c.5291G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861177.1:p.Gly1764Ala",
        "hgvsWellDefined": "XP_016861177.1:p.Gly1764Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560894"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5327,
          "referenceAllele": "G",
          "start": 5326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_017005689.1:c.5291G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861178.1:p.Gly1764Ala",
        "hgvsWellDefined": "XP_016861178.1:p.Gly1764Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560895"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5327,
          "referenceAllele": "G",
          "start": 5326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_017005690.1:c.5291G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861179.1:p.Gly1764Ala",
        "hgvsWellDefined": "XP_016861179.1:p.Gly1764Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560896"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5327,
          "referenceAllele": "G",
          "start": 5326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_017005691.1:c.5291G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861180.1:p.Gly1764Ala",
        "hgvsWellDefined": "XP_016861180.1:p.Gly1764Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5327,
          "referenceAllele": "G",
          "start": 5326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_017005692.1:c.5291G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861181.1:p.Gly1764Ala",
        "hgvsWellDefined": "XP_016861181.1:p.Gly1764Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560898"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5327,
          "referenceAllele": "G",
          "start": 5326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_001740003.1:n.5327G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590263"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5327,
          "referenceAllele": "G",
          "start": 5326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_001740004.1:n.5327G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590264"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5327,
          "referenceAllele": "G",
          "start": 5326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_001740005.1:n.5327G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590265"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5327,
          "referenceAllele": "G",
          "start": 5326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_001740006.1:n.5327G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590266"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5327,
          "referenceAllele": "G",
          "start": 5326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_001740007.1:n.5327G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590267"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5327,
          "referenceAllele": "G",
          "start": 5326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_001740008.1:n.5327G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590268"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5327,
          "referenceAllele": "G",
          "start": 5326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_001740009.1:n.5327G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590269"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645380898",
      "coordinates": [
        {
          "allele": "C",
          "end": 5354,
          "referenceAllele": "G",
          "start": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "NM_000094.4:c.5291G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000085.1:p.Gly1764Ala",
        "hgvsWellDefined": "NP_000085.1:p.Gly1764Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710799",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000681320.1:c.5291G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000094.4:c.5291G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000506558.1:p.Gly1764Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000085.1:p.Gly1764Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}