{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA376724125",
  "communityStandardTitle": [
    "NM_000124.4(ERCC6):c.2167C>A (p.Gln723Lys)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.50690735G>T?assembly=hg19",
        "id": "chr10:g.50690735G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.49482689G>T?assembly=hg38",
        "id": "chr10:g.49482689G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/151242354",
        "rs": 151242354
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-49482689-G-T?dataset=gnomad_r4",
        "id": "10-49482689-G-T",
        "variant": "10:49482689 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 49482689,
          "referenceAllele": "G",
          "start": 49482688
        }
      ],
      "hgvs": [
        "NC_000010.11:g.49482689G>T",
        "CM000672.2:g.49482689G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 50690735,
          "referenceAllele": "G",
          "start": 50690734
        }
      ],
      "hgvs": [
        "NC_000010.10:g.50690735G>T",
        "CM000672.1:g.50690735G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 50360741,
          "referenceAllele": "G",
          "start": 50360740
        }
      ],
      "hgvs": [
        "NC_000010.9:g.50360741G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 61413,
          "referenceAllele": "C",
          "start": 61412
        }
      ],
      "hgvs": [
        "NG_009442.1:g.61413C>A",
        "LRG_465:g.61413C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001594"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2341,
          "referenceAllele": "C",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000355832.10:c.2167C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348089.5:p.Gln723Lys",
        "hgvsWellDefined": "ENSP00000348089.5:p.Gln723Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748723",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355832.10:c.2167C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000124.4:c.2167C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348089.5:p.Gln723Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000115.1:p.Gln723Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2245,
          "referenceAllele": "C",
          "start": 2244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000681632.1:n.2245C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2112,
          "referenceAllele": "C",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000681659.1:c.2008C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505631.1:p.Gln670Lys",
        "hgvsWellDefined": "ENSP00000505631.1:p.Gln670Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2246,
          "referenceAllele": "C",
          "start": 2245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000355832.9:c.2167C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348089.5:p.Gln723Lys",
        "hgvsWellDefined": "ENSP00000348089.5:p.Gln723Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6647,
          "referenceAllele": "C",
          "start": 6646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000623073.3:c.*559C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485650.1:n.*559C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 590,
          "referenceAllele": "C",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000623115.3:c.277C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485321.1:p.Gln93Lys",
        "hgvsWellDefined": "ENSP00000485321.1:p.Gln93Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076723049",
      "coordinates": [
        {
          "allele": "A",
          "end": 2343,
          "referenceAllele": "C",
          "start": 2342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NM_000124.3:c.2167C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000115.1:p.Gln723Lys",
        "hgvsWellDefined": "NP_000115.1:p.Gln723Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006186"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2339,
          "referenceAllele": "C",
          "start": 2338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NM_001346440.1:c.2167C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333369.1:p.Gln723Lys",
        "hgvsWellDefined": "NP_001333369.1:p.Gln723Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076723049",
      "coordinates": [
        {
          "allele": "A",
          "end": 2341,
          "referenceAllele": "C",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NM_000124.4:c.2167C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000115.1:p.Gln723Lys",
        "hgvsWellDefined": "NP_000115.1:p.Gln723Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662322",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355832.10:c.2167C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000124.4:c.2167C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348089.5:p.Gln723Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000115.1:p.Gln723Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2337,
          "referenceAllele": "C",
          "start": 2336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NM_001346440.2:c.2167C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333369.1:p.Gln723Lys",
        "hgvsWellDefined": "NP_001333369.1:p.Gln723Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718939"
    }
  ],
  "type": "nucleotide"
}