{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA239569",
  "communityStandardTitle": [
    "NM_004369.4(COL6A3):c.5036G>A (p.Gly1679Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32188[alleleid]",
        "alleleId": 32188,
        "preferredName": "NM_004369.4(COL6A3):c.5036G>A (p.Gly1679Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17149",
        "RCV": [
          "RCV000018689",
          "RCV003764588",
          "RCV000790696"
        ],
        "variationId": 17149
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.238275794C>T?assembly=hg19",
        "id": "chr2:g.238275794C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.237367151C>T?assembly=hg38",
        "id": "chr2:g.237367151C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121434553",
        "rs": 121434553
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 237367151,
          "referenceAllele": "C",
          "start": 237367150
        }
      ],
      "hgvs": [
        "NC_000002.12:g.237367151C>T",
        "CM000664.2:g.237367151C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 238275794,
          "referenceAllele": "C",
          "start": 238275793
        }
      ],
      "hgvs": [
        "NC_000002.11:g.238275794C>T",
        "CM000664.1:g.238275794C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 237940533,
          "referenceAllele": "C",
          "start": 237940532
        }
      ],
      "hgvs": [
        "NC_000002.10:g.237940533C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 52057,
          "referenceAllele": "G",
          "start": 52056
        }
      ],
      "hgvs": [
        "NG_008676.1:g.52057G>A",
        "LRG_473:g.52057G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001161"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4668,
          "referenceAllele": "G",
          "start": 4667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000353578.9:c.4418G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315873.4:p.Gly1473Glu",
        "hgvsWellDefined": "ENSP00000315873.4:p.Gly1473Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824068"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 366,
          "referenceAllele": "G",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000684597.1:c.366G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5278,
          "referenceAllele": "G",
          "start": 5277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000295550.9:c.5036G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295550.4:p.Gly1679Glu",
        "hgvsWellDefined": "ENSP00000295550.4:p.Gly1679Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744301",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295550.9:c.5036G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004369.4:c.5036G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295550.4:p.Gly1679Glu"
          },
          "RefSeq": {
            "hgvs": "NP_004360.2:p.Gly1679Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5489,
          "referenceAllele": "G",
          "start": 5488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000295550.8:c.5036G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295550.4:p.Gly1679Glu",
        "hgvsWellDefined": "ENSP00000295550.4:p.Gly1679Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254109"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3441,
          "referenceAllele": "G",
          "start": 3440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000347401.7:c.3215G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315609.4:p.Gly1072Glu",
        "hgvsWellDefined": "ENSP00000315609.4:p.Gly1072Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4703,
          "referenceAllele": "G",
          "start": 4702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000353578.8:c.4418G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315873.4:p.Gly1473Glu",
        "hgvsWellDefined": "ENSP00000315873.4:p.Gly1473Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262979"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4418,
          "referenceAllele": "G",
          "start": 4417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000409809.5:c.4418G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386844.1:p.Gly1473Glu",
        "hgvsWellDefined": "ENSP00000386844.1:p.Gly1473Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3441,
          "referenceAllele": "G",
          "start": 3440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000472056.5:c.3215G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418285.1:p.Gly1072Glu",
        "hgvsWellDefined": "ENSP00000418285.1:p.Gly1072Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314119"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094147",
      "coordinates": [
        {
          "allele": "A",
          "end": 5321,
          "referenceAllele": "G",
          "start": 5320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_004369.3:c.5036G>A",
        "LRG_473t1:c.5036G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004360.2:p.Gly1679Glu",
        "hgvsWellDefined": "NP_004360.2:p.Gly1679Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830147454",
      "coordinates": [
        {
          "allele": "A",
          "end": 3500,
          "referenceAllele": "G",
          "start": 3499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057166.4:c.3215G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_476507.3:p.Gly1072Glu",
        "hgvsWellDefined": "NP_476507.3:p.Gly1072Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830149735",
      "coordinates": [
        {
          "allele": "A",
          "end": 4703,
          "referenceAllele": "G",
          "start": 4702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057167.3:c.4418G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_476508.2:p.Gly1473Glu",
        "hgvsWellDefined": "NP_476508.2:p.Gly1473Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040060"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4678,
          "referenceAllele": "G",
          "start": 4677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_005246065.1:c.4436G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246122.1:p.Gly1479Glu",
        "hgvsWellDefined": "XP_005246122.1:p.Gly1479Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057455"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3824,
          "referenceAllele": "G",
          "start": 3823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_005246066.1:c.3815G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246123.1:p.Gly1272Glu",
        "hgvsWellDefined": "XP_005246123.1:p.Gly1272Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057456"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4777,
          "referenceAllele": "G",
          "start": 4776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_006712253.1:c.4535G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712316.1:p.Gly1512Glu",
        "hgvsWellDefined": "XP_006712316.1:p.Gly1512Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5275,
          "referenceAllele": "G",
          "start": 5274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_011510574.1:c.5033G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508876.1:p.Gly1678Glu",
        "hgvsWellDefined": "XP_011508876.1:p.Gly1678Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3078,
          "referenceAllele": "G",
          "start": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_011510575.1:c.2630G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508877.1:p.Gly877Glu",
        "hgvsWellDefined": "XP_011508877.1:p.Gly877Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3540,
          "referenceAllele": "G",
          "start": 3539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_017003304.1:c.2630G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858793.1:p.Gly877Glu",
        "hgvsWellDefined": "XP_016858793.1:p.Gly877Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559074"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4026,
          "referenceAllele": "G",
          "start": 4025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_024452684.1:c.3815G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308452.1:p.Gly1272Glu",
        "hgvsWellDefined": "XP_024308452.1:p.Gly1272Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094147",
      "coordinates": [
        {
          "allele": "A",
          "end": 5278,
          "referenceAllele": "G",
          "start": 5277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_004369.4:c.5036G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004360.2:p.Gly1679Glu",
        "hgvsWellDefined": "NP_004360.2:p.Gly1679Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696119",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295550.9:c.5036G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004369.4:c.5036G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295550.4:p.Gly1679Glu"
          },
          "RefSeq": {
            "hgvs": "NP_004360.2:p.Gly1679Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830147454",
      "coordinates": [
        {
          "allele": "A",
          "end": 3457,
          "referenceAllele": "G",
          "start": 3456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057166.5:c.3215G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_476507.3:p.Gly1072Glu",
        "hgvsWellDefined": "NP_476507.3:p.Gly1072Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830149735",
      "coordinates": [
        {
          "allele": "A",
          "end": 4660,
          "referenceAllele": "G",
          "start": 4659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057167.4:c.4418G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_476508.2:p.Gly1473Glu",
        "hgvsWellDefined": "NP_476508.2:p.Gly1473Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729011"
    }
  ],
  "type": "nucleotide"
}