{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394823995",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2468C>A (p.Pro823His)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14041921C>A?assembly=hg19",
        "id": "chr16:g.14041921C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.13948064C>A?assembly=hg38",
        "id": "chr16:g.13948064C>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 13948064,
          "referenceAllele": "C",
          "start": 13948063
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13948064C>A",
        "CM000678.2:g.13948064C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 14041921,
          "referenceAllele": "C",
          "start": 14041920
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041921C>A",
        "CM000678.1:g.14041921C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 13949422,
          "referenceAllele": "C",
          "start": 13949421
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949422C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 32908,
          "referenceAllele": "C",
          "start": 32907
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32908C>A",
        "LRG_463:g.32908C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2634,
          "referenceAllele": "C",
          "start": 2633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2606C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Pro869His",
        "hgvsWellDefined": "ENSP00000507912.1:p.Pro869His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2588,
          "referenceAllele": "C",
          "start": 2587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*2162C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*2162C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2480,
          "referenceAllele": "C",
          "start": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2468C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Pro823His",
        "hgvsWellDefined": "ENSP00000310520.7:p.Pro823His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2468C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2468C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Pro823His"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Pro823His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2477,
          "referenceAllele": "C",
          "start": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2468C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Pro823His",
        "hgvsWellDefined": "ENSP00000310520.7:p.Pro823His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1745,
          "referenceAllele": "C",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1745C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2477,
          "referenceAllele": "C",
          "start": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2468C>A",
        "LRG_463t1:c.2468C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Pro823His",
        "hgvsWellDefined": "NP_005227.1:p.Pro823His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2627,
          "referenceAllele": "C",
          "start": 2626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2606C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Pro869His",
        "hgvsWellDefined": "XP_011520726.1:p.Pro869His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3160,
          "referenceAllele": "C",
          "start": 3159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1925C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Pro642His",
        "hgvsWellDefined": "XP_011520727.1:p.Pro642His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1776,
          "referenceAllele": "C",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1679C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Pro560His",
        "hgvsWellDefined": "XP_011520728.1:p.Pro560His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1614,
          "referenceAllele": "C",
          "start": 1613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.1118C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Pro373His",
        "hgvsWellDefined": "XP_011520729.1:p.Pro373His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2627,
          "referenceAllele": "C",
          "start": 2626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2627C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2635,
          "referenceAllele": "C",
          "start": 2634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2606C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Pro869His",
        "hgvsWellDefined": "XP_011520726.1:p.Pro869His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2599,
          "referenceAllele": "C",
          "start": 2598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1679C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Pro560His",
        "hgvsWellDefined": "XP_016878532.1:p.Pro560His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2480,
          "referenceAllele": "C",
          "start": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2468C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Pro823His",
        "hgvsWellDefined": "NP_005227.1:p.Pro823His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2468C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2468C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Pro823His"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Pro823His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}