{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10624649",
  "communityStandardTitle": [
    "NM_004465.2(FGF10):c.144G>A (p.Glu48=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=304057[alleleid]",
        "alleleId": 304057,
        "preferredName": "NM_004465.2(FGF10):c.144G>A (p.Glu48=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/353727",
        "RCV": [
          "RCV000377629"
        ],
        "variationId": 353727
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.44388641C>T?assembly=hg19",
        "id": "chr5:g.44388641C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.44388539C>T?assembly=hg38",
        "id": "chr5:g.44388539C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886060655",
        "rs": 886060655
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-44388641-C-T?dataset=gnomad_r2_1",
        "id": "5-44388641-C-T",
        "variant": "5:44388641 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-44388539-C-T?dataset=gnomad_r3",
        "id": "5-44388539-C-T",
        "variant": "5:44388539 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-44388539-C-T?dataset=gnomad_r4",
        "id": "5-44388539-C-T",
        "variant": "5:44388539 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 44388539,
          "referenceAllele": "C",
          "start": 44388538
        }
      ],
      "hgvs": [
        "NC_000005.10:g.44388539C>T",
        "CM000667.2:g.44388539C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 44388641,
          "referenceAllele": "C",
          "start": 44388640
        }
      ],
      "hgvs": [
        "NC_000005.9:g.44388641C>T",
        "CM000667.1:g.44388641C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 44424398,
          "referenceAllele": "C",
          "start": 44424397
        }
      ],
      "hgvs": [
        "NC_000005.8:g.44424398C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5144,
          "referenceAllele": "G",
          "start": 5143
        }
      ],
      "hgvs": [
        "NG_011446.1:g.5144G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001724"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 882,
          "referenceAllele": "G",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003666",
      "geneNCBI_id": 2255,
      "geneSymbol": "FGF10",
      "hgvs": [
        "ENST00000264664.5:c.144G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264664.4:p.Glu48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742708",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264664.5:c.144G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004465.2:c.144G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264664.4:p.Glu48="
          },
          "RefSeq": {
            "hgvs": "NP_004456.1:p.Glu48="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 259,
          "referenceAllele": "G",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003666",
      "geneNCBI_id": 2255,
      "geneSymbol": "FGF10",
      "hgvs": [
        "ENST00000264664.4:c.144G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264664.4:p.Glu48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251552"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1077,
          "referenceAllele": "G",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003666",
      "geneNCBI_id": 2255,
      "geneSymbol": "FGF10",
      "hgvs": [
        "ENST00000513107.1:c.144G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426406.1:p.Glu48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829521882",
      "coordinates": [
        {
          "allele": "A",
          "end": 144,
          "referenceAllele": "G",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003666",
      "geneNCBI_id": 2255,
      "geneSymbol": "FGF10",
      "hgvs": [
        "NM_004465.1:c.144G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004456.1:p.Glu48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029627"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1151,
          "referenceAllele": "G",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003666",
      "geneNCBI_id": 2255,
      "geneSymbol": "FGF10",
      "hgvs": [
        "XM_005248264.2:c.144G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248321.1:p.Glu48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1077,
          "referenceAllele": "G",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003666",
      "geneNCBI_id": 2255,
      "geneSymbol": "FGF10",
      "hgvs": [
        "XM_005248264.4:c.144G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248321.1:p.Glu48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533032"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829521882",
      "coordinates": [
        {
          "allele": "A",
          "end": 882,
          "referenceAllele": "G",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003666",
      "geneNCBI_id": 2255,
      "geneSymbol": "FGF10",
      "hgvs": [
        "NM_004465.2:c.144G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004456.1:p.Glu48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696147",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264664.5:c.144G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004465.2:c.144G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264664.4:p.Glu48="
          },
          "RefSeq": {
            "hgvs": "NP_004456.1:p.Glu48="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}