{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3085519383",
  "communityStandardTitle": [
    "NM_024572.4(GALNT14):c.129+46269A>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1000916",
        "rs": 1000916
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 31091689,
          "referenceAllele": "T",
          "start": 31091688
        }
      ],
      "hgvs": [
        "NC_000002.12:g.31091689T>G",
        "CM000664.2:g.31091689T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 31314555,
          "referenceAllele": "T",
          "start": 31314554
        }
      ],
      "hgvs": [
        "NC_000002.11:g.31314555T>G",
        "CM000664.1:g.31314555T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 31168059,
          "referenceAllele": "T",
          "start": 31168058
        }
      ],
      "hgvs": [
        "NC_000002.10:g.31168059T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 52038,
          "referenceAllele": "A",
          "start": 52037
        }
      ],
      "hgvs": [
        "NG_051040.1:g.52038A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616860"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 483,
          "endIntronDirection": "+",
          "endIntronOffset": 46269,
          "referenceAllele": "A",
          "start": 483,
          "startIntronDirection": "+",
          "startIntronOffset": 46268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "ENST00000349752.10:c.129+46269A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288988.6:n.129+46269A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748414",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000349752.10:c.129+46269A>C"
          },
          "RefSeq": {
            "hgvs": "NM_024572.4:c.129+46269A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288988.6:n.129+46269A>C"
          },
          "RefSeq": {
            "hgvs": "NP_078848.2:n.129+46269A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 375,
          "endIntronDirection": "+",
          "endIntronOffset": 23054,
          "referenceAllele": "A",
          "start": 375,
          "startIntronDirection": "+",
          "startIntronOffset": 23053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "ENST00000324589.9:c.314+23054A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314500.5:n.314+23054A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 769,
          "endIntronDirection": "+",
          "endIntronOffset": 46269,
          "referenceAllele": "A",
          "start": 769,
          "startIntronDirection": "+",
          "startIntronOffset": 46268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "ENST00000349752.9:c.129+46269A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288988.6:n.129+46269A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262619"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 533,
          "endIntronDirection": "+",
          "endIntronOffset": 23054,
          "referenceAllele": "A",
          "start": 533,
          "startIntronDirection": "+",
          "startIntronOffset": 23053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "ENST00000406653.5:c.69+23054A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385435.1:n.69+23054A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280704"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 181,
          "endIntronDirection": "+",
          "endIntronOffset": 40941,
          "referenceAllele": "A",
          "start": 181,
          "startIntronDirection": "+",
          "startIntronOffset": 40940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "ENST00000424136.5:c.181+40941A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS288112"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 546,
          "endIntronDirection": "+",
          "endIntronOffset": 46269,
          "referenceAllele": "A",
          "start": 546,
          "startIntronDirection": "+",
          "startIntronOffset": 46268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "ENST00000430167.1:c.129+46269A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406399.1:n.129+46269A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 198,
          "endIntronDirection": "+",
          "endIntronOffset": 33465,
          "referenceAllele": "A",
          "start": 198,
          "startIntronDirection": "+",
          "startIntronOffset": 33464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "ENST00000455477.5:c.198+33465A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303065"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "endIntronDirection": "+",
          "endIntronOffset": 33465,
          "referenceAllele": "A",
          "start": 164,
          "startIntronDirection": "+",
          "startIntronOffset": 33464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "ENST00000461193.5:n.164+33465A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305764"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 388,
          "endIntronDirection": "+",
          "endIntronOffset": 55233,
          "referenceAllele": "A",
          "start": 388,
          "startIntronDirection": "+",
          "startIntronOffset": 55232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "ENST00000464038.5:n.388+55233A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 157,
          "endIntronDirection": "-",
          "endIntronOffset": 12622,
          "referenceAllele": "A",
          "start": 157,
          "startIntronDirection": "-",
          "startIntronOffset": 12623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "ENST00000485468.1:n.158-12623A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324487"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 364,
          "endIntronDirection": "+",
          "endIntronOffset": 37588,
          "referenceAllele": "A",
          "start": 364,
          "startIntronDirection": "+",
          "startIntronOffset": 37587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "ENST00000490212.5:n.364+37588A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328099"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 201,
          "endIntronDirection": "-",
          "endIntronOffset": 18513,
          "referenceAllele": "A",
          "start": 201,
          "startIntronDirection": "-",
          "startIntronOffset": 18514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "ENST00000496397.5:n.202-18514A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332876"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 358,
          "endIntronDirection": "+",
          "endIntronOffset": 23054,
          "referenceAllele": "A",
          "start": 358,
          "startIntronDirection": "+",
          "startIntronOffset": 23053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "ENST00000498206.5:n.358+23054A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334269"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 954,
          "endIntronDirection": "+",
          "endIntronOffset": 23054,
          "referenceAllele": "A",
          "start": 954,
          "startIntronDirection": "+",
          "startIntronOffset": 23053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "NM_001253826.1:c.314+23054A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001240755.1:n.314+23054A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018970"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 549,
          "endIntronDirection": "+",
          "endIntronOffset": 23054,
          "referenceAllele": "A",
          "start": 549,
          "startIntronDirection": "+",
          "startIntronOffset": 23053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "NM_001253827.1:c.69+23054A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001240756.1:n.69+23054A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018971"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 769,
          "endIntronDirection": "+",
          "endIntronOffset": 46269,
          "referenceAllele": "A",
          "start": 769,
          "startIntronDirection": "+",
          "startIntronOffset": 46268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "NM_024572.3:c.129+46269A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_078848.2:n.129+46269A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 769,
          "endIntronDirection": "-",
          "endIntronOffset": 12622,
          "referenceAllele": "A",
          "start": 769,
          "startIntronDirection": "-",
          "startIntronOffset": 12623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "NR_045602.1:n.770-12623A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051359"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 725,
          "endIntronDirection": "-",
          "endIntronOffset": 12622,
          "referenceAllele": "A",
          "start": 725,
          "startIntronDirection": "-",
          "startIntronOffset": 12623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "XM_011533104.1:c.315-12623A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531406.1:n.315-12623A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100129"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 303,
          "endIntronDirection": "+",
          "endIntronOffset": 23054,
          "referenceAllele": "A",
          "start": 303,
          "startIntronDirection": "+",
          "startIntronOffset": 23053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "XM_011533105.1:c.69+23054A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531407.1:n.69+23054A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 906,
          "endIntronDirection": "+",
          "endIntronOffset": 55233,
          "referenceAllele": "A",
          "start": 906,
          "startIntronDirection": "+",
          "startIntronOffset": 55232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "XM_011533106.1:c.42+55233A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531408.1:n.42+55233A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100131"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 769,
          "endIntronDirection": "-",
          "endIntronOffset": 12622,
          "referenceAllele": "A",
          "start": 769,
          "startIntronDirection": "-",
          "startIntronOffset": 12623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "NM_001329095.1:c.-109-12623A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316024.1:n.-109-12623A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516150"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 954,
          "endIntronDirection": "+",
          "endIntronOffset": 23054,
          "referenceAllele": "A",
          "start": 954,
          "startIntronDirection": "+",
          "startIntronOffset": 23053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "NM_001329096.1:c.69+23054A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316025.1:n.69+23054A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 769,
          "endIntronDirection": "+",
          "endIntronOffset": 46269,
          "referenceAllele": "A",
          "start": 769,
          "startIntronDirection": "+",
          "startIntronOffset": 46268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "NM_001329097.1:c.129+46269A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316026.1:n.129+46269A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516152"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 483,
          "endIntronDirection": "+",
          "endIntronOffset": 46269,
          "referenceAllele": "A",
          "start": 483,
          "startIntronDirection": "+",
          "startIntronOffset": 46268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "NM_024572.4:c.129+46269A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_078848.2:n.129+46269A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670683",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000349752.10:c.129+46269A>C"
          },
          "RefSeq": {
            "hgvs": "NM_024572.4:c.129+46269A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288988.6:n.129+46269A>C"
          },
          "RefSeq": {
            "hgvs": "NP_078848.2:n.129+46269A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 668,
          "endIntronDirection": "+",
          "endIntronOffset": 23054,
          "referenceAllele": "A",
          "start": 668,
          "startIntronDirection": "+",
          "startIntronOffset": 23053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "NM_001253826.2:c.314+23054A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001240755.1:n.314+23054A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 483,
          "endIntronDirection": "-",
          "endIntronOffset": 12622,
          "referenceAllele": "A",
          "start": 483,
          "startIntronDirection": "-",
          "startIntronOffset": 12623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "NM_001329095.2:c.-109-12623A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316024.1:n.-109-12623A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 668,
          "endIntronDirection": "+",
          "endIntronOffset": 23054,
          "referenceAllele": "A",
          "start": 668,
          "startIntronDirection": "+",
          "startIntronOffset": 23053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "NM_001329096.2:c.69+23054A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316025.1:n.69+23054A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686522"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 483,
          "endIntronDirection": "+",
          "endIntronOffset": 46269,
          "referenceAllele": "A",
          "start": 483,
          "startIntronDirection": "+",
          "startIntronOffset": 46268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "NM_001329097.2:c.129+46269A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316026.1:n.129+46269A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686523"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 549,
          "endIntronDirection": "+",
          "endIntronOffset": 23054,
          "referenceAllele": "A",
          "start": 549,
          "startIntronDirection": "+",
          "startIntronOffset": 23053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022946",
      "geneNCBI_id": 79623,
      "geneSymbol": "GALNT14",
      "hgvs": [
        "NM_001253827.2:c.69+23054A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001240756.1:n.69+23054A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714654"
    }
  ],
  "type": "nucleotide"
}