{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341171012",
  "communityStandardTitle": [
    "NM_001854.4(COL11A1):c.3241G>A (p.Gly1081Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.103412440C>T?assembly=hg19",
        "id": "chr1:g.103412440C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.102946884C>T?assembly=hg38",
        "id": "chr1:g.102946884C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397514455",
        "rs": 397514455
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-102946884-C-T?dataset=gnomad_r4",
        "id": "1-102946884-C-T",
        "variant": "1:102946884 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 102946884,
          "referenceAllele": "C",
          "start": 102946883
        }
      ],
      "hgvs": [
        "NC_000001.11:g.102946884C>T",
        "CM000663.2:g.102946884C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 103412440,
          "referenceAllele": "C",
          "start": 103412439
        }
      ],
      "hgvs": [
        "NC_000001.10:g.103412440C>T",
        "CM000663.1:g.103412440C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 103185028,
          "referenceAllele": "C",
          "start": 103185027
        }
      ],
      "hgvs": [
        "NC_000001.9:g.103185028C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 166613,
          "referenceAllele": "G",
          "start": 166612
        }
      ],
      "hgvs": [
        "NG_008033.1:g.166613G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000790"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 166613,
          "referenceAllele": "G",
          "start": 166612
        }
      ],
      "hgvs": [
        "NG_008033.2:g.166613G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673484"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3585,
          "referenceAllele": "G",
          "start": 3584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000370096.9:c.3241G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359114.3:p.Gly1081Ser",
        "hgvsWellDefined": "ENSP00000359114.3:p.Gly1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750540",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370096.9:c.3241G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001854.4:c.3241G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359114.3:p.Gly1081Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001845.3:p.Gly1081Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3442,
          "referenceAllele": "G",
          "start": 3441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000353414.8:c.3124G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302551.6:p.Gly1042Ser",
        "hgvsWellDefined": "ENSP00000302551.6:p.Gly1042Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3595,
          "referenceAllele": "G",
          "start": 3594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000358392.6:c.3277G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351163.2:p.Gly1093Ser",
        "hgvsWellDefined": "ENSP00000351163.2:p.Gly1093Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3554,
          "referenceAllele": "G",
          "start": 3553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000370096.7:c.3241G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359114.3:p.Gly1081Ser",
        "hgvsWellDefined": "ENSP00000359114.3:p.Gly1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267871"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3194,
          "referenceAllele": "G",
          "start": 3193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000512756.5:c.2893G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426533.1:p.Gly965Ser",
        "hgvsWellDefined": "ENSP00000426533.1:p.Gly965Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2575,
          "referenceAllele": "G",
          "start": 2574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000635193.1:c.2575G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3442,
          "referenceAllele": "G",
          "start": 3441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001190709.1:c.3124G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177638.1:p.Gly1042Ser",
        "hgvsWellDefined": "NP_001177638.1:p.Gly1042Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064134866",
      "coordinates": [
        {
          "allele": "A",
          "end": 3559,
          "referenceAllele": "G",
          "start": 3558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001854.3:c.3241G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001845.3:p.Gly1081Ser",
        "hgvsWellDefined": "NP_001845.3:p.Gly1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3595,
          "referenceAllele": "G",
          "start": 3594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080629.2:c.3277G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_542196.2:p.Gly1093Ser",
        "hgvsWellDefined": "NP_542196.2:p.Gly1093Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3211,
          "referenceAllele": "G",
          "start": 3210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080630.3:c.2893G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_542197.3:p.Gly965Ser",
        "hgvsWellDefined": "NP_542197.3:p.Gly965Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3638,
          "referenceAllele": "G",
          "start": 3637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_011540719.1:c.3241G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539021.1:p.Gly1081Ser",
        "hgvsWellDefined": "XP_011539021.1:p.Gly1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107663"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1642,
          "referenceAllele": "G",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_011540720.1:c.1474G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539022.1:p.Gly492Ser",
        "hgvsWellDefined": "XP_011539022.1:p.Gly492Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107664"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2575,
          "referenceAllele": "G",
          "start": 2574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_011540721.1:c.829G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539023.1:p.Gly277Ser",
        "hgvsWellDefined": "XP_011539023.1:p.Gly277Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3575,
          "referenceAllele": "G",
          "start": 3574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NR_134980.1:n.3575G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527909"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3795,
          "referenceAllele": "G",
          "start": 3794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000334.1:c.3394G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855823.1:p.Gly1132Ser",
        "hgvsWellDefined": "XP_016855823.1:p.Gly1132Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556713"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3789,
          "referenceAllele": "G",
          "start": 3788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000335.1:c.3388G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855824.1:p.Gly1130Ser",
        "hgvsWellDefined": "XP_016855824.1:p.Gly1130Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3796,
          "referenceAllele": "G",
          "start": 3795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000336.1:c.3394G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855825.1:p.Gly1132Ser",
        "hgvsWellDefined": "XP_016855825.1:p.Gly1132Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556715"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2273,
          "referenceAllele": "G",
          "start": 2272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000337.1:c.1792G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855826.1:p.Gly598Ser",
        "hgvsWellDefined": "XP_016855826.1:p.Gly598Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556716"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064134866",
      "coordinates": [
        {
          "allele": "A",
          "end": 3585,
          "referenceAllele": "G",
          "start": 3584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001854.4:c.3241G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001845.3:p.Gly1081Ser",
        "hgvsWellDefined": "NP_001845.3:p.Gly1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665209",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370096.9:c.3241G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001854.4:c.3241G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359114.3:p.Gly1081Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001845.3:p.Gly1081Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3237,
          "referenceAllele": "G",
          "start": 3236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080630.4:c.2893G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_542197.3:p.Gly965Ser",
        "hgvsWellDefined": "NP_542197.3:p.Gly965Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699526"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3601,
          "referenceAllele": "G",
          "start": 3600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NR_134980.2:n.3601G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703568"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3468,
          "referenceAllele": "G",
          "start": 3467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001190709.2:c.3124G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177638.1:p.Gly1042Ser",
        "hgvsWellDefined": "NP_001177638.1:p.Gly1042Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3621,
          "referenceAllele": "G",
          "start": 3620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080629.3:c.3277G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_542196.2:p.Gly1093Ser",
        "hgvsWellDefined": "NP_542196.2:p.Gly1093Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729046"
    }
  ],
  "type": "nucleotide"
}