{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA147380",
  "communityStandardTitle": [
    "NM_001848.3(COL6A1):c.2549G>A (p.Arg850His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3758957"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99763[alleleid]",
        "alleleId": 99763,
        "preferredName": "NM_001848.3(COL6A1):c.2549G>A (p.Arg850His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93861",
        "RCV": [
          "RCV000079798",
          "RCV000305303",
          "RCV000576724",
          "RCV001521148",
          "RCV001664293"
        ],
        "variationId": 93861
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/21-47423389-G-A",
        "id": "21-47423389-G-A",
        "variant": "21:47423389 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.47423389G>A?assembly=hg19",
        "id": "chr21:g.47423389G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.46003475G>A?assembly=hg38",
        "id": "chr21:g.46003475G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1053312",
        "rs": 1053312
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-47423389-G-A?dataset=gnomad_r2_1",
        "id": "21-47423389-G-A",
        "variant": "21:47423389 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-46003475-G-A?dataset=gnomad_r3",
        "id": "21-46003475-G-A",
        "variant": "21:46003475 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-46003475-G-A?dataset=gnomad_r4",
        "id": "21-46003475-G-A",
        "variant": "21:46003475 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 46003475,
          "referenceAllele": "G",
          "start": 46003474
        }
      ],
      "hgvs": [
        "NC_000021.9:g.46003475G>A",
        "CM000683.2:g.46003475G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 47423389,
          "referenceAllele": "G",
          "start": 47423388
        }
      ],
      "hgvs": [
        "NC_000021.8:g.47423389G>A",
        "CM000683.1:g.47423389G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 46247817,
          "referenceAllele": "G",
          "start": 46247816
        }
      ],
      "hgvs": [
        "NC_000021.7:g.46247817G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 26727,
          "referenceAllele": "G",
          "start": 26726
        }
      ],
      "hgvs": [
        "NG_008674.1:g.26727G>A",
        "LRG_475:g.26727G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001159"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 948,
          "referenceAllele": "G",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002211",
      "geneNCBI_id": 1291,
      "geneSymbol": "COL6A1",
      "hgvs": [
        "ENST00000463060.6:n.948G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002211",
      "geneNCBI_id": 1291,
      "geneSymbol": "COL6A1",
      "hgvs": [
        "ENST00000612273.2:c.675G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002211",
      "geneNCBI_id": 1291,
      "geneSymbol": "COL6A1",
      "hgvs": [
        "ENST00000682634.1:c.675G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827623"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2630,
          "referenceAllele": "G",
          "start": 2629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002211",
      "geneNCBI_id": 1291,
      "geneSymbol": "COL6A1",
      "hgvs": [
        "ENST00000361866.8:c.2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355180.3:p.Arg850His",
        "hgvsWellDefined": "ENSP00000355180.3:p.Arg850His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361866.8:c.2549G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001848.3:c.2549G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355180.3:p.Arg850His"
          },
          "RefSeq": {
            "hgvs": "NP_001839.2:p.Arg850His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2663,
          "referenceAllele": "G",
          "start": 2662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002211",
      "geneNCBI_id": 1291,
      "geneSymbol": "COL6A1",
      "hgvs": [
        "ENST00000361866.7:c.2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355180.3:p.Arg850His",
        "hgvsWellDefined": "ENSP00000355180.3:p.Arg850His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 337,
          "referenceAllele": "G",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002211",
      "geneNCBI_id": 1291,
      "geneSymbol": "COL6A1",
      "hgvs": [
        "ENST00000486023.1:n.337G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 783,
          "referenceAllele": "G",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002211",
      "geneNCBI_id": 1291,
      "geneSymbol": "COL6A1",
      "hgvs": [
        "ENST00000498614.5:n.783G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334583"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2625,
          "referenceAllele": "G",
          "start": 2624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002211",
      "geneNCBI_id": 1291,
      "geneSymbol": "COL6A1",
      "hgvs": [
        "ENST00000612273.1:c.2543G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483630.1:p.Arg848His",
        "hgvsWellDefined": "ENSP00000483630.1:p.Arg848His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401235"
    },
    {
      "@id": "http://reg.genome.network/allele/PA147382",
      "coordinates": [
        {
          "allele": "A",
          "end": 2651,
          "referenceAllele": "G",
          "start": 2650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002211",
      "geneNCBI_id": 1291,
      "geneSymbol": "COL6A1",
      "hgvs": [
        "NM_001848.2:c.2549G>A",
        "LRG_475t1:c.2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001839.2:p.Arg850His",
        "hgvsWellDefined": "NP_001839.2:p.Arg850His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA147382",
      "coordinates": [
        {
          "allele": "A",
          "end": 2630,
          "referenceAllele": "G",
          "start": 2629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002211",
      "geneNCBI_id": 1291,
      "geneSymbol": "COL6A1",
      "hgvs": [
        "NM_001848.3:c.2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001839.2:p.Arg850His",
        "hgvsWellDefined": "NP_001839.2:p.Arg850His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695385",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361866.8:c.2549G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001848.3:c.2549G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355180.3:p.Arg850His"
          },
          "RefSeq": {
            "hgvs": "NP_001839.2:p.Arg850His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}