{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA006649",
  "communityStandardTitle": [
    "NM_000090.4(COL3A1):c.3554G>A (p.Gly1185Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32255[alleleid]",
        "alleleId": 32255,
        "preferredName": "NM_000090.4(COL3A1):c.3554G>A (p.Gly1185Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17216",
        "RCV": [
          "RCV000018756",
          "RCV000434900"
        ],
        "variationId": 17216
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.189873678G>A?assembly=hg19",
        "id": "chr2:g.189873678G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.189008952G>A?assembly=hg38",
        "id": "chr2:g.189008952G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912917",
        "rs": 121912917
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 189008952,
          "referenceAllele": "G",
          "start": 189008951
        }
      ],
      "hgvs": [
        "NC_000002.12:g.189008952G>A",
        "CM000664.2:g.189008952G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 189873678,
          "referenceAllele": "G",
          "start": 189873677
        }
      ],
      "hgvs": [
        "NC_000002.11:g.189873678G>A",
        "CM000664.1:g.189873678G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 189581923,
          "referenceAllele": "G",
          "start": 189581922
        }
      ],
      "hgvs": [
        "NC_000002.10:g.189581923G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 39580,
          "referenceAllele": "G",
          "start": 39579
        }
      ],
      "hgvs": [
        "NG_007404.1:g.39580G>A",
        "LRG_3:g.39580G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000569"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3572,
          "referenceAllele": "G",
          "start": 3571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000450867.2:c.3455G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415346.2:p.Gly1152Asp",
        "hgvsWellDefined": "ENSP00000415346.2:p.Gly1152Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3671,
          "referenceAllele": "G",
          "start": 3670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000304636.9:c.3554G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304408.4:p.Gly1185Asp",
        "hgvsWellDefined": "ENSP00000304408.4:p.Gly1185Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745127",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304636.9:c.3554G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000090.4:c.3554G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304408.4:p.Gly1185Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000081.2:p.Gly1185Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3724,
          "referenceAllele": "G",
          "start": 3723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000304636.7:c.3554G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304408.3:p.Gly1185Asp",
        "hgvsWellDefined": "ENSP00000304408.3:p.Gly1185Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2749,
          "referenceAllele": "G",
          "start": 2748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000317840.9:c.2645G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315243.6:p.Gly882Asp",
        "hgvsWellDefined": "ENSP00000315243.6:p.Gly882Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 651,
          "referenceAllele": "G",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000487010.1:n.651G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325679"
    },
    {
      "@id": "http://reg.genome.network/allele/PA281716",
      "coordinates": [
        {
          "allele": "A",
          "end": 3671,
          "referenceAllele": "G",
          "start": 3670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "NM_000090.3:c.3554G>A",
        "LRG_3t1:c.3554G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000081.1:p.Gly1185Asp",
        "hgvsWellDefined": "NP_000081.1:p.Gly1185Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573060832",
      "coordinates": [
        {
          "allele": "A",
          "end": 3671,
          "referenceAllele": "G",
          "start": 3670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "NM_000090.4:c.3554G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000081.2:p.Gly1185Asp",
        "hgvsWellDefined": "NP_000081.2:p.Gly1185Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674697",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304636.9:c.3554G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000090.4:c.3554G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304408.4:p.Gly1185Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000081.2:p.Gly1185Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}