{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10247974", "communityStandardTitle": [ "NM_000026.4(ADSL):c.1279A>G (p.Ile427Val)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=378732[alleleid]", "alleleId": 378732, "preferredName": "NM_000026.4(ADSL):c.1279A>G (p.Ile427Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/391918", "RCV": [ "RCV000435716", "RCV000696181" ], "variationId": 391918 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/22-40760971-A-G", "id": "22-40760971-A-G", "variant": "22:40760971 A / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.40760971A>G?assembly=hg19", "id": "chr22:g.40760971A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.40364967A>G?assembly=hg38", "id": "chr22:g.40364967A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/758241731", "rs": 758241731 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-40760971-A-G?dataset=gnomad_r2_1", "id": "22-40760971-A-G", "variant": "22:40760971 A / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-40364967-A-G?dataset=gnomad_r3", "id": "22-40364967-A-G", "variant": "22:40364967 A / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-40364967-A-G?dataset=gnomad_r4", "id": "22-40364967-A-G", "variant": "22:40364967 A / G" } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "G", "end": 40364967, "referenceAllele": "A", "start": 40364966 } ], "hgvs": [ "NC_000022.11:g.40364967A>G", "CM000684.2:g.40364967A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "G", "end": 40760971, "referenceAllele": "A", "start": 40760970 } ], "hgvs": [ "NC_000022.10:g.40760971A>G", "CM000684.1:g.40760971A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "G", "end": 39090917, "referenceAllele": "A", "start": 39090916 } ], "hgvs": [ "NC_000022.9:g.39090917A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "G", "end": 23468, "referenceAllele": "A", "start": 23467 } ], "hgvs": [ "NG_007993.1:g.23468A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000760" }, { "coordinates": [ { "allele": "G", "end": 23468, "referenceAllele": "A", "start": 23467 } ], "hgvs": [ "NG_007993.2:g.23468A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS616087" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1540, "referenceAllele": "A", "start": 1539 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000480775.3:c.*673A>G" ], "proteinEffect": { "hgvs": "ENSP00000485462.2:n.*673A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS757347" }, { "coordinates": [ { "allele": "G", "end": 1183, "referenceAllele": "A", "start": 1182 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000623287.4:c.*704A>G" ], "proteinEffect": { "hgvs": "ENSP00000485437.1:n.*704A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS762400" }, { "coordinates": [ { "allele": "G", "end": 1068, "referenceAllele": "A", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000623632.4:c.970A>G" ], "proteinEffect": { "hgvs": "ENSP00000485288.2:p.Ile324Val", "hgvsWellDefined": "ENSP00000485288.2:p.Ile324Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS762411" }, { "coordinates": [ { "allele": "G", "end": 1380, "referenceAllele": "A", "start": 1379 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000625194.4:c.1321A>G" ], "proteinEffect": { "hgvs": "ENSP00000485289.2:p.Ile441Val", "hgvsWellDefined": "ENSP00000485289.2:p.Ile441Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS762458" }, { "coordinates": [ { "allele": "G", "end": 1301, "referenceAllele": "A", "start": 1300 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000636433.1:n.1301A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS763110" }, { "coordinates": [ { "allele": "G", "end": 1324, "referenceAllele": "A", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000636714.1:c.1279A>G" ], "proteinEffect": { "hgvs": "ENSP00000490946.1:p.Ile427Val", "hgvsWellDefined": "ENSP00000490946.1:p.Ile427Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS763329" }, { "coordinates": [ { "allele": "G", "end": 1250, "endIntronDirection": "+", "endIntronOffset": 602, "referenceAllele": "A", "start": 1250, "startIntronDirection": "+", "startIntronOffset": 601 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000637666.2:c.1191+602A>G" ], "proteinEffect": { "hgvs": "ENSP00000489696.2:n.1191+602A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS764026" }, { "coordinates": [ { "allele": "G", "end": 1314, "referenceAllele": "A", "start": 1313 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000637669.1:c.1279A>G" ], "proteinEffect": { "hgvs": "ENSP00000489728.1:p.Ile427Val", "hgvsWellDefined": "ENSP00000489728.1:p.Ile427Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS764029" }, { "coordinates": [ { "allele": "G", "end": 1434, "referenceAllele": "A", "start": 1433 } ], "hgvs": [ "ENST00000639722.1:c.*975A>G" ], "proteinEffect": { "hgvs": "ENSP00000492828.1:n.*975A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS765151" }, { "coordinates": [ { "allele": "G", "end": 2793, "referenceAllele": "A", "start": 2792 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000674592.1:n.2793A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS774537" }, { "coordinates": [ { "allele": "G", "end": 4346, "referenceAllele": "A", "start": 4345 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000675622.1:n.4346A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS775415" }, { "coordinates": [ { "allele": "G", "end": 1368, "referenceAllele": "A", "start": 1367 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000679609.1:c.*889A>G" ], "proteinEffect": { "hgvs": "ENSP00000506592.1:n.*889A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS779237" }, { "coordinates": [ { "allele": "G", "end": 1964, "referenceAllele": "A", "start": 1963 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000679656.1:n.1964A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS779283" }, { "coordinates": [ { "allele": "G", "end": 1293, "referenceAllele": "A", "start": 1292 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000679723.1:c.1234A>G" ], "proteinEffect": { "hgvs": "ENSP00000505155.1:p.Ile412Val", "hgvsWellDefined": "ENSP00000505155.1:p.Ile412Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS779350" }, { "coordinates": [ { "allele": "G", "end": 1587, "referenceAllele": "A", "start": 1586 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000679845.1:n.1587A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS779467" }, { "coordinates": [ { "allele": "G", "end": 1675, "referenceAllele": "A", "start": 1674 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000679904.1:n.1675A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS779526" }, { "coordinates": [ { "allele": "G", "end": 1370, "referenceAllele": "A", "start": 1369 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000680378.1:c.1366A>G" ], "proteinEffect": { "hgvs": "ENSP00000505556.1:p.Ile456Val", "hgvsWellDefined": "ENSP00000505556.1:p.Ile456Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS779996" }, { "coordinates": [ { "allele": "G", "end": 1509, "referenceAllele": "A", "start": 1508 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000680444.1:c.*642A>G" ], "proteinEffect": { "hgvs": "ENSP00000505298.1:n.*642A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS780061" }, { "coordinates": [ { "allele": "G", "end": 1338, "referenceAllele": "A", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000680978.1:c.1279A>G" ], "proteinEffect": { "hgvs": "ENSP00000505244.1:p.Ile427Val", "hgvsWellDefined": "ENSP00000505244.1:p.Ile427Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS780592" }, { "coordinates": [ { "allele": "G", "end": 742, "referenceAllele": "A", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000681003.1:n.742A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS780617" }, { "coordinates": [ { "allele": "G", "end": 2683, "referenceAllele": "A", "start": 2682 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000681159.1:n.2683A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS780771" }, { "coordinates": [ { "allele": "G", "end": 1352, "referenceAllele": "A", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000216194.11:c.1321A>G" ], "proteinEffect": { "hgvs": "ENSP00000216194.8:p.Ile441Val", "hgvsWellDefined": "ENSP00000216194.8:p.Ile441Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247967" }, { "coordinates": [ { "allele": "G", "end": 1247, "endIntronDirection": "+", "endIntronOffset": 602, "referenceAllele": "A", "start": 1247, "startIntronDirection": "+", "startIntronOffset": 601 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000342312.9:c.1191+602A>G" ], "proteinEffect": { "hgvs": "ENSP00000341429.6:n.1191+602A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS261527" }, { "coordinates": [ { "allele": "G", "end": 6, "referenceAllele": "A", "start": 5 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000423176.6:c.6A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS287631" }, { "coordinates": [ { "allele": "G", "end": 1338, "referenceAllele": "A", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000623063.3:c.1279A>G" ], "proteinEffect": { "hgvs": "ENSP00000485525.1:p.Ile427Val", "hgvsWellDefined": "ENSP00000485525.1:p.Ile427Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS405987", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000623063.3:c.1279A>G" }, "RefSeq": { "hgvs": "NM_000026.4:c.1279A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000485525.1:p.Ile427Val" }, "RefSeq": { "hgvs": "NP_000017.1:p.Ile427Val" } } } }, { "coordinates": [ { "allele": "G", "end": 410, "referenceAllele": "A", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000623387.1:n.410A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS406063" }, { "coordinates": [ { "allele": "G", "end": 10, "referenceAllele": "A", "start": 9 } ], "hgvs": [ "ENST00000623869.3:c.10A>G" ], "proteinEffect": { "hgvs": "ENSP00000485211.1:p.Ile4Val", "hgvsWellDefined": "ENSP00000485211.1:p.Ile4Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS406187" }, { "coordinates": [ { "allele": "G", "end": 6, "referenceAllele": "A", "start": 5 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000624027.1:c.6A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS406230" }, { "coordinates": [ { "allele": "G", "end": 908, "referenceAllele": "A", "start": 907 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000625194.3:c.908A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS406535" }, { "@id": "http://reg.genome.network/allele/PA645431051", "coordinates": [ { "allele": "G", "end": 1338, "referenceAllele": "A", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_000026.2:c.1279A>G" ], "proteinEffect": { "hgvs": "NP_000017.1:p.Ile427Val", "hgvsWellDefined": "NP_000017.1:p.Ile427Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS006091" }, { "coordinates": [ { "allele": "G", "end": 1250, "endIntronDirection": "+", "endIntronOffset": 602, "referenceAllele": "A", "start": 1250, "startIntronDirection": "+", "startIntronOffset": 601 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001123378.1:c.1191+602A>G" ], "proteinEffect": { "hgvs": "NP_001116850.1:n.1191+602A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS011454" }, { "coordinates": [ { "allele": "G", "end": 1338, "referenceAllele": "A", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529976.1:c.1279A>G" ], "proteinEffect": { "hgvs": "XP_011528278.1:p.Ile427Val", "hgvsWellDefined": "XP_011528278.1:p.Ile427Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS097035" }, { "coordinates": [ { "allele": "G", "end": 1338, "referenceAllele": "A", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529977.1:c.1279A>G" ], "proteinEffect": { "hgvs": "XP_011528279.1:p.Ile427Val", "hgvsWellDefined": "XP_011528279.1:p.Ile427Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS097036" }, { "coordinates": [ { "allele": "G", "end": 1250, "endIntronDirection": "+", "endIntronOffset": 602, "referenceAllele": "A", "start": 1250, "startIntronDirection": "+", "startIntronOffset": 601 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529978.1:c.1191+602A>G" ], "proteinEffect": { "hgvs": "XP_011528280.1:n.1191+602A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS097037" }, { "coordinates": [ { "allele": "G", "end": 1338, "referenceAllele": "A", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529979.1:c.1279A>G" ], "proteinEffect": { "hgvs": "XP_011528281.1:p.Ile427Val", "hgvsWellDefined": "XP_011528281.1:p.Ile427Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS097038" }, { "coordinates": [ { "allele": "G", "end": 1250, "endIntronDirection": "+", "endIntronOffset": 602, "referenceAllele": "A", "start": 1250, "startIntronDirection": "+", "startIntronOffset": 601 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529980.1:c.1191+602A>G" ], "proteinEffect": { "hgvs": "XP_011528282.1:n.1191+602A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS097039" }, { "coordinates": [ { "allele": "G", "end": 1195, "referenceAllele": "A", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529981.1:c.814A>G" ], "proteinEffect": { "hgvs": "XP_011528283.1:p.Ile272Val", "hgvsWellDefined": "XP_011528283.1:p.Ile272Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS097040" }, { "coordinates": [ { "allele": "G", "end": 878, "referenceAllele": "A", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529982.1:c.448A>G" ], "proteinEffect": { "hgvs": "XP_011528284.1:p.Ile150Val", "hgvsWellDefined": "XP_011528284.1:p.Ile150Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS097041" }, { "coordinates": [ { "allele": "G", "end": 1369, "referenceAllele": "A", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_937824.1:n.1369A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS132626" }, { "coordinates": [ { "allele": "G", "end": 1281, "endIntronDirection": "+", "endIntronOffset": 602, "referenceAllele": "A", "start": 1281, "startIntronDirection": "+", "startIntronOffset": 601 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_937825.1:n.1281+602A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS132627" }, { "@id": "http://reg.genome.network/allele/PA645431051", "coordinates": [ { "allele": "G", "end": 1338, "referenceAllele": "A", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_000026.3:c.1279A>G" ], "proteinEffect": { "hgvs": "NP_000017.1:p.Ile427Val", "hgvsWellDefined": "NP_000017.1:p.Ile427Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS510737" }, { "coordinates": [ { "allele": "G", "end": 1250, "endIntronDirection": "+", "endIntronOffset": 602, "referenceAllele": "A", "start": 1250, "startIntronDirection": "+", "startIntronOffset": 601 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001123378.2:c.1191+602A>G" ], "proteinEffect": { "hgvs": "NP_001116850.1:n.1191+602A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS511387" }, { "@id": "http://reg.genome.network/allele/PA2826972389", "coordinates": [ { "allele": "G", "end": 1283, "referenceAllele": "A", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001317923.1:c.1087A>G" ], "proteinEffect": { "hgvs": "NP_001304852.1:p.Ile363Val", "hgvsWellDefined": "NP_001304852.1:p.Ile363Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS512598" }, { "@id": "http://reg.genome.network/allele/PA916044524", "coordinates": [ { "allele": "G", "end": 1338, "referenceAllele": "A", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001363840.1:c.1279A>G" ], "proteinEffect": { "hgvs": "NP_001350769.1:p.Ile427Val", "hgvsWellDefined": "NP_001350769.1:p.Ile427Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS523595" }, { "coordinates": [ { "allele": "G", "end": 1369, "referenceAllele": "A", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NR_134256.1:n.1369A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS527496" }, { "coordinates": [ { "allele": "G", "end": 1336, "referenceAllele": "A", "start": 1335 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529977.3:c.1279A>G" ], "proteinEffect": { "hgvs": "XP_011528279.1:p.Ile427Val", "hgvsWellDefined": "XP_011528279.1:p.Ile427Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS549749" }, { "coordinates": [ { "allele": "G", "end": 1248, "endIntronDirection": "+", "endIntronOffset": 602, "referenceAllele": "A", "start": 1248, "startIntronDirection": "+", "startIntronOffset": 601 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529980.3:c.1191+602A>G" ], "proteinEffect": { "hgvs": "XP_011528282.1:n.1191+602A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS549750" }, { "coordinates": [ { "allele": "G", "end": 1275, "referenceAllele": "A", "start": 1274 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_017028636.1:c.1234A>G" ], "proteinEffect": { "hgvs": "XP_016884125.1:p.Ile412Val", "hgvsWellDefined": "XP_016884125.1:p.Ile412Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS578329" }, { "coordinates": [ { "allele": "G", "end": 1258, "referenceAllele": "A", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_017028637.1:c.1234A>G" ], "proteinEffect": { "hgvs": "XP_016884126.1:p.Ile412Val", "hgvsWellDefined": "XP_016884126.1:p.Ile412Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS578330" }, { "coordinates": [ { "allele": "G", "end": 1195, "referenceAllele": "A", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_017028638.1:c.814A>G" ], "proteinEffect": { "hgvs": "XP_016884127.1:p.Ile272Val", "hgvsWellDefined": "XP_016884127.1:p.Ile272Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS578331" }, { "coordinates": [ { "allele": "G", "end": 1179, "referenceAllele": "A", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_017028639.2:c.814A>G" ], "proteinEffect": { "hgvs": "XP_016884128.1:p.Ile272Val", "hgvsWellDefined": "XP_016884128.1:p.Ile272Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS578332" }, { "coordinates": [ { "allele": "G", "end": 878, "referenceAllele": "A", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_017028640.1:c.448A>G" ], "proteinEffect": { "hgvs": "XP_016884129.1:p.Ile150Val", "hgvsWellDefined": "XP_016884129.1:p.Ile150Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS578333" }, { "coordinates": [ { "allele": "G", "end": 1187, "endIntronDirection": "+", "endIntronOffset": 602, "referenceAllele": "A", "start": 1187, "startIntronDirection": "+", "startIntronOffset": 601 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_024452166.1:c.1146+602A>G" ], "proteinEffect": { "hgvs": "XP_024307934.1:n.1146+602A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS585664" }, { "coordinates": [ { "allele": "G", "end": 1521, "referenceAllele": "A", "start": 1520 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_001755176.2:n.1521A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS601039" }, { "coordinates": [ { "allele": "G", "end": 1306, "referenceAllele": "A", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_002958670.1:n.1306A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS604795" }, { "coordinates": [ { "allele": "G", "end": 1279, "endIntronDirection": "+", "endIntronOffset": 602, "referenceAllele": "A", "start": 1279, "startIntronDirection": "+", "startIntronOffset": 601 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_937825.3:n.1279+602A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS611738" }, { "@id": "http://reg.genome.network/allele/PA645431051", "coordinates": [ { "allele": "G", "end": 1338, "referenceAllele": "A", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_000026.4:c.1279A>G" ], "proteinEffect": { "hgvs": "NP_000017.1:p.Ile427Val", "hgvsWellDefined": "NP_000017.1:p.Ile427Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS662289", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000623063.3:c.1279A>G" }, "RefSeq": { "hgvs": "NM_000026.4:c.1279A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000485525.1:p.Ile427Val" }, "RefSeq": { "hgvs": "NP_000017.1:p.Ile427Val" } } } }, { "@id": "http://reg.genome.network/allele/PA916044524", "coordinates": [ { "allele": "G", "end": 1338, "referenceAllele": "A", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001363840.2:c.1279A>G" ], "proteinEffect": { "hgvs": "NP_001350769.1:p.Ile427Val", "hgvsWellDefined": "NP_001350769.1:p.Ile427Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690783" }, { "coordinates": [ { "allele": "G", "end": 1250, "endIntronDirection": "+", "endIntronOffset": 602, "referenceAllele": "A", "start": 1250, "startIntronDirection": "+", "startIntronOffset": 601 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001123378.3:c.1191+602A>G" ], "proteinEffect": { "hgvs": "NP_001116850.1:n.1191+602A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS712166" }, { "@id": "http://reg.genome.network/allele/PA2826972389", "coordinates": [ { "allele": "G", "end": 1283, "referenceAllele": "A", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001317923.2:c.1087A>G" ], "proteinEffect": { "hgvs": "NP_001304852.1:p.Ile363Val", "hgvsWellDefined": "NP_001304852.1:p.Ile363Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS717463" }, { "@id": "http://reg.genome.network/allele/PA916044524", "coordinates": [ { "allele": "G", "end": 1338, "referenceAllele": "A", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001363840.3:c.1279A>G" ], "proteinEffect": { "hgvs": "NP_001350769.1:p.Ile427Val", "hgvsWellDefined": "NP_001350769.1:p.Ile427Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS720801" }, { "coordinates": [ { "allele": "G", "end": 1369, "referenceAllele": "A", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NR_134256.2:n.1369A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS730851" } ], "type": "nucleotide" }