{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2483705", "communityStandardTitle": [ "NM_001379210.1(SLC25A26):c.425G>A (p.Arg142Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2227298[alleleid]", "alleleId": 2227298, "preferredName": "NM_001379210.1(SLC25A26):c.425G>A (p.Arg142Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2231371", "RCV": [ "RCV002708024" ], "variationId": 2231371 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/3-66313775-G-A", "id": "3-66313775-G-A", "variant": "3:66313775 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.66313775G>A?assembly=hg19", "id": "chr3:g.66313775G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.66263351G>A?assembly=hg38", "id": "chr3:g.66263351G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/779427588", "rs": 779427588 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-66313775-G-A?dataset=gnomad_r2_1", "id": "3-66313775-G-A", "variant": "3:66313775 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-66263351-G-A?dataset=gnomad_r4", "id": "3-66263351-G-A", "variant": "3:66263351 G / A" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 66263351, "referenceAllele": "G", "start": 66263350 } ], "hgvs": [ "NC_000003.12:g.66263351G>A", "CM000665.2:g.66263351G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 66313775, "referenceAllele": "G", "start": 66313774 } ], "hgvs": [ "NC_000003.11:g.66313775G>A", "CM000665.1:g.66313775G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 66396465, "referenceAllele": "G", "start": 66396464 } ], "hgvs": [ "NC_000003.10:g.66396465G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 134742, "referenceAllele": "G", "start": 134741 } ], "hgvs": [ "NG_054637.1:g.134742G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS617483" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 371, "referenceAllele": "G", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "ENST00000686445.1:c.161G>A" ], "proteinEffect": { "hgvs": "ENSP00000509085.1:p.Arg54Gln", "hgvsWellDefined": "ENSP00000509085.1:p.Arg54Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS830579" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "ENST00000686511.1:c.161G>A" ], "proteinEffect": { "hgvs": "ENSP00000509933.1:p.Arg54Gln", "hgvsWellDefined": "ENSP00000509933.1:p.Arg54Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS830607" }, { "coordinates": [ { "allele": "A", "end": 531, "referenceAllele": "G", "start": 530 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "ENST00000687663.1:n.531G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831201" }, { "coordinates": [ { "allele": "A", "end": 246, "referenceAllele": "G", "start": 245 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "ENST00000688696.1:c.158G>A" ], "proteinEffect": { "hgvs": "ENSP00000509851.1:p.Arg53Gln", "hgvsWellDefined": "ENSP00000509851.1:p.Arg53Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS831762" }, { "coordinates": [ { "allele": "A", "end": 703, "referenceAllele": "G", "start": 702 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "ENST00000689520.1:c.161G>A" ], "proteinEffect": { "hgvs": "ENSP00000509413.1:p.Arg54Gln", "hgvsWellDefined": "ENSP00000509413.1:p.Arg54Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS832215" }, { "coordinates": [ { "allele": "A", "end": 398, "referenceAllele": "G", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "ENST00000690560.1:c.176G>A" ], "proteinEffect": { "hgvs": "ENSP00000509947.1:p.Arg59Gln", "hgvsWellDefined": "ENSP00000509947.1:p.Arg59Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS832763" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "ENST00000690634.1:c.161G>A" ], "proteinEffect": { "hgvs": "ENSP00000510529.1:p.Arg54Gln", "hgvsWellDefined": "ENSP00000510529.1:p.Arg54Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS832802" }, { "coordinates": [ { "allele": "A", "end": 523, "referenceAllele": "G", "start": 522 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "ENST00000691166.1:n.523G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833079" }, { "coordinates": [ { "allele": "A", "end": 650, "referenceAllele": "G", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "ENST00000691461.1:c.161G>A" ], "proteinEffect": { "hgvs": "ENSP00000510022.1:p.Arg54Gln", "hgvsWellDefined": "ENSP00000510022.1:p.Arg54Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS833229" }, { "coordinates": [ { "allele": "A", "end": 356, "referenceAllele": "G", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "ENST00000691525.1:c.161G>A" ], "proteinEffect": { "hgvs": "ENSP00000510274.1:p.Arg54Gln", "hgvsWellDefined": "ENSP00000510274.1:p.Arg54Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS833261" }, { "coordinates": [ { "allele": "A", "end": 523, "referenceAllele": "G", "start": 522 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "ENST00000691582.1:c.425G>A" ], "proteinEffect": { "hgvs": "ENSP00000510010.1:p.Arg142Gln", "hgvsWellDefined": "ENSP00000510010.1:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS833283" }, { "coordinates": [ { "allele": "A", "end": 438, "referenceAllele": "G", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "ENST00000691603.1:n.438G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833289" }, { "coordinates": [ { "allele": "A", "end": 237, "endIntronDirection": "+", "endIntronOffset": 20039, "referenceAllele": "G", "start": 237, "startIntronDirection": "+", "startIntronOffset": 20038 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "ENST00000693385.1:c.36+20039G>A" ], "proteinEffect": { "hgvs": "ENSP00000509739.1:n.36+20039G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS834217" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "ENST00000354883.11:c.425G>A" ], "proteinEffect": { "hgvs": "ENSP00000346955.6:p.Arg142Gln", "hgvsWellDefined": "ENSP00000346955.6:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS748608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354883.11:c.425G>A" }, "RefSeq": { "hgvs": "NM_001379210.1:c.425G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346955.6:p.Arg142Gln" }, "RefSeq": { "hgvs": "NP_001366139.1:p.Arg142Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 1153, "referenceAllele": "G", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "ENST00000676754.1:c.425G>A" ], "proteinEffect": { "hgvs": "ENSP00000504323.1:p.Arg142Gln", "hgvsWellDefined": "ENSP00000504323.1:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS776428" }, { "coordinates": [ { "allele": "A", "end": 351, "referenceAllele": "G", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "ENST00000336733.10:c.161G>A" ], "proteinEffect": { "hgvs": "ENSP00000336801.5:p.Arg54Gln", "hgvsWellDefined": "ENSP00000336801.5:p.Arg54Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS260353" }, { "coordinates": [ { "allele": "A", "end": 1153, "referenceAllele": "G", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "ENST00000354883.10:c.425G>A" ], "proteinEffect": { "hgvs": "ENSP00000346955.6:p.Arg142Gln", "hgvsWellDefined": "ENSP00000346955.6:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS263264" }, { "coordinates": [ { "allele": "A", "end": 235, "referenceAllele": "G", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "ENST00000413054.5:c.161G>A" ], "proteinEffect": { "hgvs": "ENSP00000415304.2:p.Arg54Gln", "hgvsWellDefined": "ENSP00000415304.2:p.Arg54Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS282886" }, { "coordinates": [ { "allele": "A", "end": 299, "referenceAllele": "G", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "ENST00000464350.6:c.161G>A" ], "proteinEffect": { "hgvs": "ENSP00000432574.2:p.Arg54Gln", "hgvsWellDefined": "ENSP00000432574.2:p.Arg54Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS308204" }, { "coordinates": [ { "allele": "A", "end": 235, "referenceAllele": "G", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "ENST00000483224.5:c.235G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS322746" }, { "coordinates": [ { "allele": "A", "end": 181, "referenceAllele": "G", "start": 180 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "ENST00000484768.1:n.181G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS323947" }, { "@id": "http://reg.genome.network/allele/PA2826004343", "coordinates": [ { "allele": "A", "end": 621, "referenceAllele": "G", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NM_001164796.1:c.161G>A" ], "proteinEffect": { "hgvs": "NP_001158268.1:p.Arg54Gln", "hgvsWellDefined": "NP_001158268.1:p.Arg54Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS014671" }, { "@id": "http://reg.genome.network/allele/PA2830359041", "coordinates": [ { "allele": "A", "end": 1153, "referenceAllele": "G", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NM_173471.3:c.425G>A" ], "proteinEffect": { "hgvs": "NP_775742.4:p.Arg142Gln", "hgvsWellDefined": "NP_775742.4:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS042837" }, { "coordinates": [ { "allele": "A", "end": 621, "referenceAllele": "G", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NR_028475.1:n.621G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS048083" }, { "coordinates": [ { "allele": "A", "end": 734, "referenceAllele": "G", "start": 733 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "XM_006712956.1:c.425G>A" ], "proteinEffect": { "hgvs": "XP_006713019.1:p.Arg142Gln", "hgvsWellDefined": "XP_006713019.1:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS069928" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "XM_006712957.2:c.425G>A" ], "proteinEffect": { "hgvs": "XP_006713020.1:p.Arg142Gln", "hgvsWellDefined": "XP_006713020.1:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS069929" }, { "coordinates": [ { "allele": "A", "end": 516, "referenceAllele": "G", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "XM_011533327.1:c.161G>A" ], "proteinEffect": { "hgvs": "XP_011531629.1:p.Arg54Gln", "hgvsWellDefined": "XP_011531629.1:p.Arg54Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS100350" }, { "coordinates": [ { "allele": "A", "end": 734, "referenceAllele": "G", "start": 733 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "XM_011533328.1:c.425G>A" ], "proteinEffect": { "hgvs": "XP_011531630.1:p.Arg142Gln", "hgvsWellDefined": "XP_011531630.1:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS100351" }, { "coordinates": [ { "allele": "A", "end": 734, "referenceAllele": "G", "start": 733 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "XR_427246.1:n.734G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS117659" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "XR_940366.1:n.519G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS135062" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "XR_940367.1:n.519G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS135063" }, { "coordinates": [ { "allele": "A", "end": 734, "referenceAllele": "G", "start": 733 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "XR_940368.1:n.734G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS135064" }, { "coordinates": [ { "allele": "A", "end": 528, "referenceAllele": "G", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NM_001350991.1:c.425G>A" ], "proteinEffect": { "hgvs": "NP_001337920.1:p.Arg142Gln", "hgvsWellDefined": "NP_001337920.1:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS519820" }, { "coordinates": [ { "allele": "A", "end": 369, "referenceAllele": "G", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NM_001350992.1:c.161G>A" ], "proteinEffect": { "hgvs": "NP_001337921.1:p.Arg54Gln", "hgvsWellDefined": "NP_001337921.1:p.Arg54Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS519821" }, { "@id": "http://reg.genome.network/allele/PA2827582106", "coordinates": [ { "allele": "A", "end": 865, "referenceAllele": "G", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NM_001350993.1:c.161G>A" ], "proteinEffect": { "hgvs": "NP_001337922.1:p.Arg54Gln", "hgvsWellDefined": "NP_001337922.1:p.Arg54Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS519822" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "XM_006712956.2:c.425G>A" ], "proteinEffect": { "hgvs": "XP_006713019.1:p.Arg142Gln", "hgvsWellDefined": "XP_006713019.1:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS538396" }, { "coordinates": [ { "allele": "A", "end": 516, "referenceAllele": "G", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "XM_011533327.2:c.161G>A" ], "proteinEffect": { "hgvs": "XP_011531629.1:p.Arg54Gln", "hgvsWellDefined": "XP_011531629.1:p.Arg54Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS551205" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "XM_011533328.2:c.425G>A" ], "proteinEffect": { "hgvs": "XP_011531630.1:p.Arg142Gln", "hgvsWellDefined": "XP_011531630.1:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS551206" }, { "coordinates": [ { "allele": "A", "end": 373, "referenceAllele": "G", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "XM_017005674.1:c.161G>A" ], "proteinEffect": { "hgvs": "XP_016861163.1:p.Arg54Gln", "hgvsWellDefined": "XP_016861163.1:p.Arg54Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS560880" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "XM_024453335.1:c.425G>A" ], "proteinEffect": { "hgvs": "XP_024309103.1:p.Arg142Gln", "hgvsWellDefined": "XP_024309103.1:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS586717" }, { "coordinates": [ { "allele": "A", "end": 351, "referenceAllele": "G", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "XR_001739995.1:n.351G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS590255" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "XR_001739996.2:n.519G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS590256" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "XR_002959488.1:n.508G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS605421" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "XR_427246.2:n.508G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS606412" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "XR_940366.3:n.519G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS612623" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "XR_940367.3:n.519G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS612624" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "XR_940368.2:n.508G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS612625" }, { "@id": "http://reg.genome.network/allele/PA2828815798", "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NM_001379210.1:c.425G>A" ], "proteinEffect": { "hgvs": "NP_001366139.1:p.Arg142Gln", "hgvsWellDefined": "NP_001366139.1:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS721932", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354883.11:c.425G>A" }, "RefSeq": { "hgvs": "NM_001379210.1:c.425G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346955.6:p.Arg142Gln" }, "RefSeq": { "hgvs": "NP_001366139.1:p.Arg142Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2830359041", "coordinates": [ { "allele": "A", "end": 1153, "referenceAllele": "G", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NM_173471.4:c.425G>A" ], "proteinEffect": { "hgvs": "NP_775742.4:p.Arg142Gln", "hgvsWellDefined": "NP_775742.4:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS729577" }, { "@id": "http://reg.genome.network/allele/PA2829315874", "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NM_001400705.1:c.425G>A" ], "proteinEffect": { "hgvs": "NP_001387634.1:p.Arg142Gln", "hgvsWellDefined": "NP_001387634.1:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS783965" }, { "@id": "http://reg.genome.network/allele/PA2829315934", "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NM_001400707.1:c.425G>A" ], "proteinEffect": { "hgvs": "NP_001387636.1:p.Arg142Gln", "hgvsWellDefined": "NP_001387636.1:p.Arg142Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS783967" }, { "@id": "http://reg.genome.network/allele/PA2829315988", "coordinates": [ { "allele": "A", "end": 362, "referenceAllele": "G", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NM_001400709.1:c.161G>A" ], "proteinEffect": { "hgvs": "NP_001387638.1:p.Arg54Gln", "hgvsWellDefined": "NP_001387638.1:p.Arg54Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS783969" }, { "@id": "http://reg.genome.network/allele/PA2829316035", "coordinates": [ { "allele": "A", "end": 489, "referenceAllele": "G", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NM_001400711.1:c.161G>A" ], "proteinEffect": { "hgvs": "NP_001387640.1:p.Arg54Gln", "hgvsWellDefined": "NP_001387640.1:p.Arg54Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS783971" }, { "@id": "http://reg.genome.network/allele/PA2580251802", "coordinates": [ { "allele": "A", "end": 362, "referenceAllele": "G", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NM_001400714.1:c.161G>A" ], "proteinEffect": { "hgvs": "NP_001387643.1:p.Arg54Gln", "hgvsWellDefined": "NP_001387643.1:p.Arg54Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS783974" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NR_174566.1:n.519G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS785005" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NR_174567.1:n.519G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS785006" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NR_174568.1:n.519G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS785007" }, { "coordinates": [ { "allele": "A", "end": 362, "referenceAllele": "G", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NR_174569.1:n.362G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS785008" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NR_174570.1:n.519G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS785009" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NR_174571.1:n.519G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS785010" }, { "coordinates": [ { "allele": "A", "end": 489, "referenceAllele": "G", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NR_174572.1:n.489G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS785011" }, { "coordinates": [ { "allele": "A", "end": 362, "referenceAllele": "G", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NR_174573.1:n.362G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS785012" }, { "coordinates": [ { "allele": "A", "end": 362, "referenceAllele": "G", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NR_174574.1:n.362G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS785013" }, { "coordinates": [ { "allele": "A", "end": 606, "referenceAllele": "G", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NR_174575.1:n.606G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS785014" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NR_174576.1:n.519G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS785015" }, { "coordinates": [ { "allele": "A", "end": 362, "referenceAllele": "G", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NR_174577.1:n.362G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS785016" }, { "coordinates": [ { "allele": "A", "end": 362, "referenceAllele": "G", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NR_174578.1:n.362G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS785017" }, { "coordinates": [ { "allele": "A", "end": 362, "referenceAllele": "G", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN020661", "geneNCBI_id": 115286, "geneSymbol": "SLC25A26", "hgvs": [ "NR_174579.1:n.362G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS785018" } ], "type": "nucleotide" }