{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA9724655", "communityStandardTitle": [ "NM_033409.4(SLC52A3):c.907A>G (p.Ile303Val)" ], "externalRecords": { "COSMIC": [ { "active": false, "id": "COSM4998052" }, { "active": false, "id": "COSM4998053" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=257431[alleleid]", "alleleId": 257431, "preferredName": "NM_033409.4(SLC52A3):c.907A>G (p.Ile303Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/262241", "RCV": [ "RCV000242118", "RCV001538142", "RCV001523330", "RCV002500929" ], "variationId": 262241 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/20-744308-T-C", "id": "20-744308-T-C", "variant": "20:744308 T / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.744308T>C?assembly=hg19", "id": "chr20:g.744308T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.763664T>C?assembly=hg38", "id": "chr20:g.763664T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/3746802", "rs": 3746802 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-744308-T-C?dataset=gnomad_r2_1", "id": "20-744308-T-C", "variant": "20:744308 T / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-763664-T-C?dataset=gnomad_r3", "id": "20-763664-T-C", "variant": "20:763664 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-763664-T-C?dataset=gnomad_r4", "id": "20-763664-T-C", "variant": "20:763664 T / C" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "C", "end": 763664, "referenceAllele": "T", "start": 763663 } ], "hgvs": [ "NC_000020.11:g.763664T>C", "CM000682.2:g.763664T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "C", "end": 744308, "referenceAllele": "T", "start": 744307 } ], "hgvs": [ "NC_000020.10:g.744308T>C", "CM000682.1:g.744308T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "C", "end": 692308, "referenceAllele": "T", "start": 692307 } ], "hgvs": [ "NC_000020.9:g.692308T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "G", "end": 9921, "referenceAllele": "A", "start": 9920 } ], "hgvs": [ "NG_027687.1:g.9921A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS003910" }, { "coordinates": [ { "allele": "G", "end": 17322, "referenceAllele": "A", "start": 17321 } ], "hgvs": [ "NG_027687.2:g.17322A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS706132" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1295, "referenceAllele": "A", "start": 1294 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000381944.5:c.907A>G" ], "proteinEffect": { "hgvs": "ENSP00000371370.3:p.Ile303Val", "hgvsWellDefined": "ENSP00000371370.3:p.Ile303Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS752601" }, { "coordinates": [ { "allele": "G", "end": 618, "endIntronDirection": "+", "endIntronOffset": 1544, "referenceAllele": "A", "start": 618, "startIntronDirection": "+", "startIntronOffset": 1543 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000473664.2:c.567+1544A>G" ], "proteinEffect": { "hgvs": "ENSP00000502741.1:n.567+1544A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS757099" }, { "coordinates": [ { "allele": "G", "end": 1671, "referenceAllele": "A", "start": 1670 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000488495.3:c.907A>G" ], "proteinEffect": { "hgvs": "ENSP00000494009.1:p.Ile303Val", "hgvsWellDefined": "ENSP00000494009.1:p.Ile303Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS757594" }, { "coordinates": [ { "allele": "G", "end": 1162, "referenceAllele": "A", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000645534.1:c.907A>G" ], "proteinEffect": { "hgvs": "ENSP00000494193.1:p.Ile303Val", "hgvsWellDefined": "ENSP00000494193.1:p.Ile303Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS768409", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000645534.1:c.907A>G" }, "RefSeq": { "hgvs": "NM_033409.4:c.907A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000494193.1:p.Ile303Val" }, "RefSeq": { "hgvs": "NP_212134.3:p.Ile303Val" } } } }, { "coordinates": [ { "allele": "G", "end": 1086, "referenceAllele": "A", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000675066.1:c.907A>G" ], "proteinEffect": { "hgvs": "ENSP00000501902.1:p.Ile303Val", "hgvsWellDefined": "ENSP00000501902.1:p.Ile303Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS774938" }, { "coordinates": [ { "allele": "G", "end": 1205, "referenceAllele": "A", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000217254.11:c.907A>G" ], "proteinEffect": { "hgvs": "ENSP00000217254.7:p.Ile303Val", "hgvsWellDefined": "ENSP00000217254.7:p.Ile303Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS248079" }, { "coordinates": [ { "allele": "G", "end": 1149, "referenceAllele": "A", "start": 1148 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000381944.4:c.907A>G" ], "proteinEffect": { "hgvs": "ENSP00000371370.3:p.Ile303Val", "hgvsWellDefined": "ENSP00000371370.3:p.Ile303Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS273564" }, { "coordinates": [ { "allele": "G", "end": 618, "endIntronDirection": "+", "endIntronOffset": 1544, "referenceAllele": "A", "start": 618, "startIntronDirection": "+", "startIntronOffset": 1543 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000473664.1:n.618+1544A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS315357" }, { "coordinates": [ { "allele": "G", "end": 1246, "referenceAllele": "A", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000632431.1:c.907A>G" ], "proteinEffect": { "hgvs": "ENSP00000488723.1:p.Ile303Val", "hgvsWellDefined": "ENSP00000488723.1:p.Ile303Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS407575" }, { "@id": "http://reg.genome.network/allele/PA645376221", "coordinates": [ { "allele": "G", "end": 1246, "referenceAllele": "A", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "NM_033409.3:c.907A>G" ], "proteinEffect": { "hgvs": "NP_212134.3:p.Ile303Val", "hgvsWellDefined": "NP_212134.3:p.Ile303Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS039726" }, { "coordinates": [ { "allele": "G", "end": 1175, "referenceAllele": "A", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "XM_005260655.3:c.907A>G" ], "proteinEffect": { "hgvs": "XP_005260712.1:p.Ile303Val", "hgvsWellDefined": "XP_005260712.1:p.Ile303Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS062867" }, { "coordinates": [ { "allele": "G", "end": 1684, "referenceAllele": "A", "start": 1683 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "XM_011529148.1:c.907A>G" ], "proteinEffect": { "hgvs": "XP_011527450.1:p.Ile303Val", "hgvsWellDefined": "XP_011527450.1:p.Ile303Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS096218" }, { "coordinates": [ { "allele": "G", "end": 1205, "referenceAllele": "A", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "XM_005260655.4:c.907A>G" ], "proteinEffect": { "hgvs": "XP_005260712.1:p.Ile303Val", "hgvsWellDefined": "XP_005260712.1:p.Ile303Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS535218" }, { "coordinates": [ { "allele": "G", "end": 1206, "referenceAllele": "A", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "XM_024451821.1:c.907A>G" ], "proteinEffect": { "hgvs": "XP_024307589.1:p.Ile303Val", "hgvsWellDefined": "XP_024307589.1:p.Ile303Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS585330" }, { "@id": "http://reg.genome.network/allele/PA645376221", "coordinates": [ { "allele": "G", "end": 1162, "referenceAllele": "A", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "NM_033409.4:c.907A>G" ], "proteinEffect": { "hgvs": "NP_212134.3:p.Ile303Val", "hgvsWellDefined": "NP_212134.3:p.Ile303Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS671563", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000645534.1:c.907A>G" }, "RefSeq": { "hgvs": "NM_033409.4:c.907A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000494193.1:p.Ile303Val" }, "RefSeq": { "hgvs": "NP_212134.3:p.Ile303Val" } } } }, { "@id": "http://reg.genome.network/allele/PA2828375000", "coordinates": [ { "allele": "G", "end": 1175, "referenceAllele": "A", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "NM_001370085.1:c.907A>G" ], "proteinEffect": { "hgvs": "NP_001357014.1:p.Ile303Val", "hgvsWellDefined": "NP_001357014.1:p.Ile303Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS692109" }, { "@id": "http://reg.genome.network/allele/PA2828375351", "coordinates": [ { "allele": "G", "end": 1684, "referenceAllele": "A", "start": 1683 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "NM_001370086.1:c.907A>G" ], "proteinEffect": { "hgvs": "NP_001357015.1:p.Ile303Val", "hgvsWellDefined": "NP_001357015.1:p.Ile303Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS692110" } ], "type": "nucleotide" }