{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA204960",
  "communityStandardTitle": [
    "NM_000494.4(COL17A1):c.2816C>T (p.Thr939Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205532[alleleid]",
        "alleleId": 205532,
        "preferredName": "NM_000494.4(COL17A1):c.2816C>T (p.Thr939Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/208977",
        "RCV": [
          "RCV000190896",
          "RCV003556236"
        ],
        "variationId": 208977
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.105799371G>A?assembly=hg19",
        "id": "chr10:g.105799371G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.104039613G>A?assembly=hg38",
        "id": "chr10:g.104039613G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/797045142",
        "rs": 797045142
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-104039613-G-A?dataset=gnomad_r4",
        "id": "10-104039613-G-A",
        "variant": "10:104039613 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 104039613,
          "referenceAllele": "G",
          "start": 104039612
        }
      ],
      "hgvs": [
        "NC_000010.11:g.104039613G>A",
        "CM000672.2:g.104039613G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 105799371,
          "referenceAllele": "G",
          "start": 105799370
        }
      ],
      "hgvs": [
        "NC_000010.10:g.105799371G>A",
        "CM000672.1:g.105799371G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 105789361,
          "referenceAllele": "G",
          "start": 105789360
        }
      ],
      "hgvs": [
        "NC_000010.9:g.105789361G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 51268,
          "referenceAllele": "C",
          "start": 51267
        }
      ],
      "hgvs": [
        "NG_007069.1:g.51268C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000449"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2761,
          "endIntronDirection": "-",
          "endIntronOffset": 491,
          "referenceAllele": "C",
          "start": 2761,
          "startIntronDirection": "-",
          "startIntronOffset": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002194",
      "geneNCBI_id": 1308,
      "geneSymbol": "COL17A1",
      "hgvs": [
        "ENST00000369733.8:c.2762-492C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358748.3:n.2762-492C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2985,
          "referenceAllele": "C",
          "start": 2984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002194",
      "geneNCBI_id": 1308,
      "geneSymbol": "COL17A1",
      "hgvs": [
        "ENST00000648076.2:c.2816C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497653.1:p.Thr939Ile",
        "hgvsWellDefined": "ENSP00000497653.1:p.Thr939Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769775",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648076.2:c.2816C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000494.4:c.2816C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497653.1:p.Thr939Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000485.3:p.Thr939Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3107,
          "referenceAllele": "C",
          "start": 3106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002194",
      "geneNCBI_id": 1308,
      "geneSymbol": "COL17A1",
      "hgvs": [
        "ENST00000353479.9:c.2816C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340937.5:p.Thr939Ile",
        "hgvsWellDefined": "ENSP00000340937.5:p.Thr939Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262971"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3052,
          "endIntronDirection": "-",
          "endIntronOffset": 491,
          "referenceAllele": "C",
          "start": 3052,
          "startIntronDirection": "-",
          "startIntronOffset": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002194",
      "geneNCBI_id": 1308,
      "geneSymbol": "COL17A1",
      "hgvs": [
        "ENST00000369733.7:c.2762-492C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358748.3:n.2762-492C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA204961",
      "coordinates": [
        {
          "allele": "T",
          "end": 2985,
          "referenceAllele": "C",
          "start": 2984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002194",
      "geneNCBI_id": 1308,
      "geneSymbol": "COL17A1",
      "hgvs": [
        "NM_000494.3:c.2816C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000485.3:p.Thr939Ile",
        "hgvsWellDefined": "NP_000485.3:p.Thr939Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA204961",
      "coordinates": [
        {
          "allele": "T",
          "end": 2985,
          "referenceAllele": "C",
          "start": 2984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002194",
      "geneNCBI_id": 1308,
      "geneSymbol": "COL17A1",
      "hgvs": [
        "NM_000494.4:c.2816C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000485.3:p.Thr939Ile",
        "hgvsWellDefined": "NP_000485.3:p.Thr939Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648076.2:c.2816C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000494.4:c.2816C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497653.1:p.Thr939Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000485.3:p.Thr939Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}