{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA358278611",
  "communityStandardTitle": [
    "NM_004362.3(CLGN):c.386C>A (p.Pro129Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=590850[alleleid]",
        "alleleId": 590850,
        "preferredName": "NM_004362.3(CLGN):c.386C>A (p.Pro129Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/599573",
        "RCV": [
          "RCV000736211"
        ],
        "variationId": 599573
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.141327129G>T?assembly=hg19",
        "id": "chr4:g.141327129G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.140405975G>T?assembly=hg38",
        "id": "chr4:g.140405975G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1560743601",
        "rs": 1560743601
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-140405975-G-T?dataset=gnomad_r4",
        "id": "4-140405975-G-T",
        "variant": "4:140405975 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 140405975,
          "referenceAllele": "G",
          "start": 140405974
        }
      ],
      "hgvs": [
        "NC_000004.12:g.140405975G>T",
        "CM000666.2:g.140405975G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 141327129,
          "referenceAllele": "G",
          "start": 141327128
        }
      ],
      "hgvs": [
        "NC_000004.11:g.141327129G>T",
        "CM000666.1:g.141327129G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 141546579,
          "referenceAllele": "G",
          "start": 141546578
        }
      ],
      "hgvs": [
        "NC_000004.10:g.141546579G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002060",
      "geneNCBI_id": 1047,
      "geneSymbol": "CLGN",
      "hgvs": [
        "ENST00000325617.10:c.386C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326699.5:p.Pro129Gln",
        "hgvsWellDefined": "ENSP00000326699.5:p.Pro129Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746707",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000325617.10:c.386C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004362.3:c.386C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326699.5:p.Pro129Gln"
          },
          "RefSeq": {
            "hgvs": "NP_004353.1:p.Pro129Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 827,
          "referenceAllele": "C",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002060",
      "geneNCBI_id": 1047,
      "geneSymbol": "CLGN",
      "hgvs": [
        "ENST00000325617.9:c.386C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326699.5:p.Pro129Gln",
        "hgvsWellDefined": "ENSP00000326699.5:p.Pro129Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 604,
          "referenceAllele": "C",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002060",
      "geneNCBI_id": 1047,
      "geneSymbol": "CLGN",
      "hgvs": [
        "ENST00000414773.5:c.386C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392782.1:p.Pro129Gln",
        "hgvsWellDefined": "ENSP00000392782.1:p.Pro129Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283678"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 553,
          "referenceAllele": "C",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002060",
      "geneNCBI_id": 1047,
      "geneSymbol": "CLGN",
      "hgvs": [
        "ENST00000509477.1:c.386C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424593.1:p.Pro129Gln",
        "hgvsWellDefined": "ENSP00000424593.1:p.Pro129Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340227"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825697037",
      "coordinates": [
        {
          "allele": "A",
          "end": 604,
          "referenceAllele": "C",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002060",
      "geneNCBI_id": 1047,
      "geneSymbol": "CLGN",
      "hgvs": [
        "NM_001130675.1:c.386C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124147.1:p.Pro129Gln",
        "hgvsWellDefined": "NP_001124147.1:p.Pro129Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012046"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913192667",
      "coordinates": [
        {
          "allele": "A",
          "end": 520,
          "referenceAllele": "C",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002060",
      "geneNCBI_id": 1047,
      "geneSymbol": "CLGN",
      "hgvs": [
        "NM_004362.2:c.386C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004353.1:p.Pro129Gln",
        "hgvsWellDefined": "NP_004353.1:p.Pro129Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029526"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913192667",
      "coordinates": [
        {
          "allele": "A",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002060",
      "geneNCBI_id": 1047,
      "geneSymbol": "CLGN",
      "hgvs": [
        "NM_004362.3:c.386C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004353.1:p.Pro129Gln",
        "hgvsWellDefined": "NP_004353.1:p.Pro129Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666447",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000325617.10:c.386C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004362.3:c.386C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326699.5:p.Pro129Gln"
          },
          "RefSeq": {
            "hgvs": "NP_004353.1:p.Pro129Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825697037",
      "coordinates": [
        {
          "allele": "A",
          "end": 591,
          "referenceAllele": "C",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002060",
      "geneNCBI_id": 1047,
      "geneSymbol": "CLGN",
      "hgvs": [
        "NM_001130675.2:c.386C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124147.1:p.Pro129Gln",
        "hgvsWellDefined": "NP_001124147.1:p.Pro129Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712337"
    }
  ],
  "type": "nucleotide"
}