{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA411643705", "communityStandardTitle": [ "NM_000026.4(ADSL):c.859A>G (p.Ile287Val)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1510614[alleleid]", "alleleId": 1510614, "preferredName": "NM_000026.4(ADSL):c.859A>G (p.Ile287Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1437877", "RCV": [ "RCV001934126" ], "variationId": 1437877 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.40757343A>G?assembly=hg19", "id": "chr22:g.40757343A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.40361339A>G?assembly=hg38", "id": "chr22:g.40361339A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1209918065", "rs": 1209918065 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-40757343-A-G?dataset=gnomad_r2_1", "id": "22-40757343-A-G", "variant": "22:40757343 A / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-40361339-A-G?dataset=gnomad_r4", "id": "22-40361339-A-G", "variant": "22:40361339 A / G" } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "G", "end": 40361339, "referenceAllele": "A", "start": 40361338 } ], "hgvs": [ "NC_000022.11:g.40361339A>G", "CM000684.2:g.40361339A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "G", "end": 40757343, "referenceAllele": "A", "start": 40757342 } ], "hgvs": [ "NC_000022.10:g.40757343A>G", "CM000684.1:g.40757343A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "G", "end": 39087289, "referenceAllele": "A", "start": 39087288 } ], "hgvs": [ "NC_000022.9:g.39087289A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "G", "end": 19840, "referenceAllele": "A", "start": 19839 } ], "hgvs": [ "NG_007993.1:g.19840A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000760" }, { "coordinates": [ { "allele": "G", "end": 19840, "referenceAllele": "A", "start": 19839 } ], "hgvs": [ "NG_007993.2:g.19840A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS616087" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1089, "referenceAllele": "A", "start": 1088 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000480775.3:c.*222A>G" ], "proteinEffect": { "hgvs": "ENSP00000485462.2:n.*222A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS757347" }, { "coordinates": [ { "allele": "G", "end": 763, "referenceAllele": "A", "start": 762 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000623287.4:c.*284A>G" ], "proteinEffect": { "hgvs": "ENSP00000485437.1:n.*284A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS762400" }, { "coordinates": [ { "allele": "G", "end": 890, "endIntronDirection": "+", "endIntronOffset": 847, "referenceAllele": "A", "start": 890, "startIntronDirection": "+", "startIntronOffset": 846 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000623632.4:c.792+847A>G" ], "proteinEffect": { "hgvs": "ENSP00000485288.2:n.792+847A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS762411" }, { "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000625194.4:c.859A>G" ], "proteinEffect": { "hgvs": "ENSP00000485289.2:p.Ile287Val", "hgvsWellDefined": "ENSP00000485289.2:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS762458" }, { "coordinates": [ { "allele": "G", "end": 889, "referenceAllele": "A", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000636265.1:c.859A>G" ], "proteinEffect": { "hgvs": "ENSP00000490909.1:p.Ile287Val", "hgvsWellDefined": "ENSP00000490909.1:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS762996" }, { "coordinates": [ { "allele": "G", "end": 881, "referenceAllele": "A", "start": 880 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000636433.1:n.881A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS763110" }, { "coordinates": [ { "allele": "G", "end": 904, "referenceAllele": "A", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000636714.1:c.859A>G" ], "proteinEffect": { "hgvs": "ENSP00000490946.1:p.Ile287Val", "hgvsWellDefined": "ENSP00000490946.1:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS763329" }, { "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000637666.2:c.859A>G" ], "proteinEffect": { "hgvs": "ENSP00000489696.2:p.Ile287Val", "hgvsWellDefined": "ENSP00000489696.2:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS764026" }, { "coordinates": [ { "allele": "G", "end": 894, "referenceAllele": "A", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000637669.1:c.859A>G" ], "proteinEffect": { "hgvs": "ENSP00000489728.1:p.Ile287Val", "hgvsWellDefined": "ENSP00000489728.1:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS764029" }, { "coordinates": [ { "allele": "G", "end": 1014, "referenceAllele": "A", "start": 1013 } ], "hgvs": [ "ENST00000639722.1:c.*555A>G" ], "proteinEffect": { "hgvs": "ENSP00000492828.1:n.*555A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS765151" }, { "coordinates": [ { "allele": "G", "end": 883, "referenceAllele": "A", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000674592.1:n.883A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS774537" }, { "coordinates": [ { "allele": "G", "end": 3926, "referenceAllele": "A", "start": 3925 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000675622.1:n.3926A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS775415" }, { "coordinates": [ { "allele": "G", "end": 948, "referenceAllele": "A", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000679609.1:c.*469A>G" ], "proteinEffect": { "hgvs": "ENSP00000506592.1:n.*469A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS779237" }, { "coordinates": [ { "allele": "G", "end": 1544, "referenceAllele": "A", "start": 1543 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000679656.1:n.1544A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS779283" }, { "coordinates": [ { "allele": "G", "end": 873, "referenceAllele": "A", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000679723.1:c.814A>G" ], "proteinEffect": { "hgvs": "ENSP00000505155.1:p.Ile272Val", "hgvsWellDefined": "ENSP00000505155.1:p.Ile272Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS779350" }, { "coordinates": [ { "allele": "G", "end": 1167, "referenceAllele": "A", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000679845.1:n.1167A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS779467" }, { "coordinates": [ { "allele": "G", "end": 1255, "referenceAllele": "A", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000679904.1:n.1255A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS779526" }, { "coordinates": [ { "allele": "G", "end": 950, "referenceAllele": "A", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000680378.1:c.946A>G" ], "proteinEffect": { "hgvs": "ENSP00000505556.1:p.Ile316Val", "hgvsWellDefined": "ENSP00000505556.1:p.Ile316Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS779996" }, { "coordinates": [ { "allele": "G", "end": 1089, "referenceAllele": "A", "start": 1088 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000680444.1:c.*222A>G" ], "proteinEffect": { "hgvs": "ENSP00000505298.1:n.*222A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS780061" }, { "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000680978.1:c.859A>G" ], "proteinEffect": { "hgvs": "ENSP00000505244.1:p.Ile287Val", "hgvsWellDefined": "ENSP00000505244.1:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS780592" }, { "coordinates": [ { "allele": "G", "end": 291, "referenceAllele": "A", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000681003.1:n.291A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS780617" }, { "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000681159.1:n.918A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS780771" }, { "coordinates": [ { "allele": "G", "end": 932, "referenceAllele": "A", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000216194.11:c.901A>G" ], "proteinEffect": { "hgvs": "ENSP00000216194.8:p.Ile301Val", "hgvsWellDefined": "ENSP00000216194.8:p.Ile301Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247967" }, { "coordinates": [ { "allele": "G", "end": 915, "referenceAllele": "A", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000342312.9:c.859A>G" ], "proteinEffect": { "hgvs": "ENSP00000341429.6:p.Ile287Val", "hgvsWellDefined": "ENSP00000341429.6:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS261527" }, { "coordinates": [ { "allele": "G", "end": 458, "referenceAllele": "A", "start": 457 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000480775.2:c.458A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS320844" }, { "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000623063.3:c.859A>G" ], "proteinEffect": { "hgvs": "ENSP00000485525.1:p.Ile287Val", "hgvsWellDefined": "ENSP00000485525.1:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS405987", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000623063.3:c.859A>G" }, "RefSeq": { "hgvs": "NM_000026.4:c.859A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000485525.1:p.Ile287Val" }, "RefSeq": { "hgvs": "NP_000017.1:p.Ile287Val" } } } }, { "coordinates": [ { "allele": "G", "end": 763, "referenceAllele": "A", "start": 762 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000623287.3:c.*284A>G" ], "proteinEffect": { "hgvs": "ENSP00000485437.1:n.*284A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS406041" }, { "coordinates": [ { "allele": "G", "end": 630, "referenceAllele": "A", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000623978.3:c.319A>G" ], "proteinEffect": { "hgvs": "ENSP00000485477.1:p.Ile107Val", "hgvsWellDefined": "ENSP00000485477.1:p.Ile107Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS406222" }, { "coordinates": [ { "allele": "G", "end": 446, "referenceAllele": "A", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000625194.3:c.446A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS406535" }, { "@id": "http://reg.genome.network/allele/PA2825005734", "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_000026.2:c.859A>G" ], "proteinEffect": { "hgvs": "NP_000017.1:p.Ile287Val", "hgvsWellDefined": "NP_000017.1:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS006091" }, { "@id": "http://reg.genome.network/allele/PA2825589979", "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001123378.1:c.859A>G" ], "proteinEffect": { "hgvs": "NP_001116850.1:p.Ile287Val", "hgvsWellDefined": "NP_001116850.1:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS011454" }, { "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529976.1:c.859A>G" ], "proteinEffect": { "hgvs": "XP_011528278.1:p.Ile287Val", "hgvsWellDefined": "XP_011528278.1:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS097035" }, { "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529977.1:c.859A>G" ], "proteinEffect": { "hgvs": "XP_011528279.1:p.Ile287Val", "hgvsWellDefined": "XP_011528279.1:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS097036" }, { "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529978.1:c.859A>G" ], "proteinEffect": { "hgvs": "XP_011528280.1:p.Ile287Val", "hgvsWellDefined": "XP_011528280.1:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS097037" }, { "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529979.1:c.859A>G" ], "proteinEffect": { "hgvs": "XP_011528281.1:p.Ile287Val", "hgvsWellDefined": "XP_011528281.1:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS097038" }, { "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529980.1:c.859A>G" ], "proteinEffect": { "hgvs": "XP_011528282.1:p.Ile287Val", "hgvsWellDefined": "XP_011528282.1:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS097039" }, { "coordinates": [ { "allele": "G", "end": 775, "referenceAllele": "A", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529981.1:c.394A>G" ], "proteinEffect": { "hgvs": "XP_011528283.1:p.Ile132Val", "hgvsWellDefined": "XP_011528283.1:p.Ile132Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS097040" }, { "coordinates": [ { "allele": "G", "end": 458, "referenceAllele": "A", "start": 457 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529982.1:c.28A>G" ], "proteinEffect": { "hgvs": "XP_011528284.1:p.Ile10Val", "hgvsWellDefined": "XP_011528284.1:p.Ile10Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS097041" }, { "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_937824.1:n.918A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS132626" }, { "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_937825.1:n.918A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS132627" }, { "coordinates": [ { "allele": "G", "end": 1103, "referenceAllele": "A", "start": 1102 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_937826.1:n.1103A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS132628" }, { "@id": "http://reg.genome.network/allele/PA2825005734", "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_000026.3:c.859A>G" ], "proteinEffect": { "hgvs": "NP_000017.1:p.Ile287Val", "hgvsWellDefined": "NP_000017.1:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS510737" }, { "@id": "http://reg.genome.network/allele/PA2825589979", "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001123378.2:c.859A>G" ], "proteinEffect": { "hgvs": "NP_001116850.1:p.Ile287Val", "hgvsWellDefined": "NP_001116850.1:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511387" }, { "@id": "http://reg.genome.network/allele/PA2826972283", "coordinates": [ { "allele": "G", "end": 863, "referenceAllele": "A", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001317923.1:c.667A>G" ], "proteinEffect": { "hgvs": "NP_001304852.1:p.Ile223Val", "hgvsWellDefined": "NP_001304852.1:p.Ile223Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS512598" }, { "@id": "http://reg.genome.network/allele/PA2573209046", "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001363840.1:c.859A>G" ], "proteinEffect": { "hgvs": "NP_001350769.1:p.Ile287Val", "hgvsWellDefined": "NP_001350769.1:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS523595" }, { "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NR_134256.1:n.918A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS527496" }, { "coordinates": [ { "allele": "G", "end": 916, "referenceAllele": "A", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529977.3:c.859A>G" ], "proteinEffect": { "hgvs": "XP_011528279.1:p.Ile287Val", "hgvsWellDefined": "XP_011528279.1:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS549749" }, { "coordinates": [ { "allele": "G", "end": 916, "referenceAllele": "A", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529980.3:c.859A>G" ], "proteinEffect": { "hgvs": "XP_011528282.1:p.Ile287Val", "hgvsWellDefined": "XP_011528282.1:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS549750" }, { "coordinates": [ { "allele": "G", "end": 855, "referenceAllele": "A", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_017028636.1:c.814A>G" ], "proteinEffect": { "hgvs": "XP_016884125.1:p.Ile272Val", "hgvsWellDefined": "XP_016884125.1:p.Ile272Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS578329" }, { "coordinates": [ { "allele": "G", "end": 838, "referenceAllele": "A", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_017028637.1:c.814A>G" ], "proteinEffect": { "hgvs": "XP_016884126.1:p.Ile272Val", "hgvsWellDefined": "XP_016884126.1:p.Ile272Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS578330" }, { "coordinates": [ { "allele": "G", "end": 775, "referenceAllele": "A", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_017028638.1:c.394A>G" ], "proteinEffect": { "hgvs": "XP_016884127.1:p.Ile132Val", "hgvsWellDefined": "XP_016884127.1:p.Ile132Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS578331" }, { "coordinates": [ { "allele": "G", "end": 759, "referenceAllele": "A", "start": 758 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_017028639.2:c.394A>G" ], "proteinEffect": { "hgvs": "XP_016884128.1:p.Ile132Val", "hgvsWellDefined": "XP_016884128.1:p.Ile132Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS578332" }, { "coordinates": [ { "allele": "G", "end": 458, "referenceAllele": "A", "start": 457 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_017028640.1:c.28A>G" ], "proteinEffect": { "hgvs": "XP_016884129.1:p.Ile10Val", "hgvsWellDefined": "XP_016884129.1:p.Ile10Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS578333" }, { "coordinates": [ { "allele": "G", "end": 855, "referenceAllele": "A", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_024452166.1:c.814A>G" ], "proteinEffect": { "hgvs": "XP_024307934.1:p.Ile272Val", "hgvsWellDefined": "XP_024307934.1:p.Ile272Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS585664" }, { "coordinates": [ { "allele": "G", "end": 1101, "referenceAllele": "A", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_001755176.2:n.1101A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS601039" }, { "coordinates": [ { "allele": "G", "end": 855, "referenceAllele": "A", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_002958670.1:n.855A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS604795" }, { "coordinates": [ { "allele": "G", "end": 1101, "referenceAllele": "A", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_002958671.1:n.1101A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS604796" }, { "coordinates": [ { "allele": "G", "end": 916, "referenceAllele": "A", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_937825.3:n.916A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS611738" }, { "@id": "http://reg.genome.network/allele/PA2825005734", "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_000026.4:c.859A>G" ], "proteinEffect": { "hgvs": "NP_000017.1:p.Ile287Val", "hgvsWellDefined": "NP_000017.1:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS662289", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000623063.3:c.859A>G" }, "RefSeq": { "hgvs": "NM_000026.4:c.859A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000485525.1:p.Ile287Val" }, "RefSeq": { "hgvs": "NP_000017.1:p.Ile287Val" } } } }, { "@id": "http://reg.genome.network/allele/PA2573209046", "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001363840.2:c.859A>G" ], "proteinEffect": { "hgvs": "NP_001350769.1:p.Ile287Val", "hgvsWellDefined": "NP_001350769.1:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690783" }, { "@id": "http://reg.genome.network/allele/PA2825589979", "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001123378.3:c.859A>G" ], "proteinEffect": { "hgvs": "NP_001116850.1:p.Ile287Val", "hgvsWellDefined": "NP_001116850.1:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS712166" }, { "@id": "http://reg.genome.network/allele/PA2826972283", "coordinates": [ { "allele": "G", "end": 863, "referenceAllele": "A", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001317923.2:c.667A>G" ], "proteinEffect": { "hgvs": "NP_001304852.1:p.Ile223Val", "hgvsWellDefined": "NP_001304852.1:p.Ile223Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS717463" }, { "@id": "http://reg.genome.network/allele/PA2573209046", "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001363840.3:c.859A>G" ], "proteinEffect": { "hgvs": "NP_001350769.1:p.Ile287Val", "hgvsWellDefined": "NP_001350769.1:p.Ile287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS720801" }, { "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NR_134256.2:n.918A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS730851" } ], "type": "nucleotide" }