{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1367418962", "communityStandardTitle": [ "NM_001377540.1(SLMAP):c.*1162T>A" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1043045", "rs": 1043045 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 57928451, "referenceAllele": "T", "start": 57928450 } ], "hgvs": [ "NC_000003.12:g.57928451T>A", "CM000665.2:g.57928451T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 57914178, "referenceAllele": "T", "start": 57914177 } ], "hgvs": [ "NC_000003.11:g.57914178T>A", "CM000665.1:g.57914178T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 57889218, "referenceAllele": "T", "start": 57889217 } ], "hgvs": [ "NC_000003.10:g.57889218T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 176196, "referenceAllele": "T", "start": 176195 } ], "hgvs": [ "NG_042789.1:g.176196T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS006006" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4780, "referenceAllele": "T", "start": 4779 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000417128.7:c.*1162T>A" ], "proteinEffect": { "hgvs": "ENSP00000412829.3:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS904729" }, { "coordinates": [ { "allele": "A", "end": 4682, "referenceAllele": "T", "start": 4681 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000465203.6:c.*1162T>A" ], "proteinEffect": { "hgvs": "ENSP00000419849.2:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS905117" }, { "coordinates": [ { "allele": "A", "end": 4619, "referenceAllele": "T", "start": 4618 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000475055.2:c.*1162T>A" ], "proteinEffect": { "hgvs": "ENSP00000499520.2:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS905225" }, { "coordinates": [ { "allele": "A", "end": 4690, "referenceAllele": "T", "start": 4689 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000670768.2:c.*1063T>A" ], "proteinEffect": { "hgvs": "ENSP00000499553.2:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS906531" }, { "coordinates": [ { "allele": "A", "end": 4825, "referenceAllele": "T", "start": 4824 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000705628.1:c.*1063T>A" ], "proteinEffect": { "hgvs": "ENSP00000516144.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS912575" }, { "coordinates": [ { "allele": "A", "end": 4592, "referenceAllele": "T", "start": 4591 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000705629.1:c.*1063T>A" ], "proteinEffect": { "hgvs": "ENSP00000516145.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS912576" }, { "coordinates": [ { "allele": "A", "end": 4631, "referenceAllele": "T", "start": 4630 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000705630.1:c.*1063T>A" ], "proteinEffect": { "hgvs": "ENSP00000516146.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS912577" }, { "coordinates": [ { "allele": "A", "end": 4403, "referenceAllele": "T", "start": 4402 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000705650.1:c.*1063T>A" ], "proteinEffect": { "hgvs": "ENSP00000516149.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS912580" }, { "coordinates": [ { "allele": "A", "end": 4541, "referenceAllele": "T", "start": 4540 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000705651.1:c.*1063T>A" ], "proteinEffect": { "hgvs": "ENSP00000516150.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS912581" }, { "coordinates": [ { "allele": "A", "end": 4691, "referenceAllele": "T", "start": 4690 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000705652.1:c.*1063T>A" ], "proteinEffect": { "hgvs": "ENSP00000516151.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS912582" }, { "coordinates": [ { "allele": "A", "end": 4574, "referenceAllele": "T", "start": 4573 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000705653.1:c.*1162T>A" ], "proteinEffect": { "hgvs": "ENSP00000516152.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS912583" }, { "coordinates": [ { "allele": "A", "end": 5189, "referenceAllele": "T", "start": 5188 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000705654.1:n.5189T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS912584" }, { "coordinates": [ { "allele": "A", "end": 2829, "referenceAllele": "T", "start": 2828 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000417128.6:c.2829T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS754676" }, { "coordinates": [ { "allele": "A", "end": 4042, "referenceAllele": "T", "start": 4041 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000428312.6:c.*1162T>A" ], "proteinEffect": { "hgvs": "ENSP00000398661.2:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS755220" }, { "coordinates": [ { "allele": "A", "end": 4688, "referenceAllele": "T", "start": 4687 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000659705.1:c.*1063T>A" ], "proteinEffect": { "hgvs": "ENSP00000499241.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS772666" }, { "coordinates": [ { "allele": "A", "end": 4762, "referenceAllele": "T", "start": 4761 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000659926.1:c.*2256T>A" ], "proteinEffect": { "hgvs": "ENSP00000499233.1:n.*2256T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS772677" }, { "coordinates": [ { "allele": "A", "end": 2509, "referenceAllele": "T", "start": 2508 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000662629.1:c.2509T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772784" }, { "coordinates": [ { "allele": "A", "end": 4061, "referenceAllele": "T", "start": 4060 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000664084.1:c.*3238T>A" ], "proteinEffect": { "hgvs": "ENSP00000499727.1:n.*3238T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS772840" }, { "coordinates": [ { "allele": "A", "end": 4806, "referenceAllele": "T", "start": 4805 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000667800.1:c.*2119T>A" ], "proteinEffect": { "hgvs": "ENSP00000499603.1:n.*2119T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS772994" }, { "coordinates": [ { "allele": "A", "end": 2496, "referenceAllele": "T", "start": 2495 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000670768.1:c.2496T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773112" }, { "coordinates": [ { "allele": "A", "end": 4829, "referenceAllele": "T", "start": 4828 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000671191.1:c.*1162T>A" ], "proteinEffect": { "hgvs": "ENSP00000499458.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773129", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000671191.1:c.*1162T>A" }, "RefSeq": { "hgvs": "NM_001377540.1:c.*1162T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000499458.1:n.*1162T>A" }, "RefSeq": { "hgvs": "NP_001364469.1:n.*1162T>A" } } } }, { "coordinates": [ { "allele": "A", "end": 4716, "referenceAllele": "T", "start": 4715 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000295951.7:c.*1063T>A" ], "proteinEffect": { "hgvs": "ENSP00000295951.3:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS254201" }, { "coordinates": [ { "allele": "A", "end": 3704, "referenceAllele": "T", "start": 3703 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000295952.7:c.*1063T>A" ], "proteinEffect": { "hgvs": "ENSP00000295952.3:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS254202" }, { "coordinates": [ { "allele": "A", "end": 2391, "referenceAllele": "T", "start": 2390 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000417128.5:c.2391T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS284774" }, { "coordinates": [ { "allele": "A", "end": 3644, "referenceAllele": "T", "start": 3643 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000428312.5:c.*1063T>A" ], "proteinEffect": { "hgvs": "ENSP00000398661.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS290137" }, { "coordinates": [ { "allele": "A", "end": 3530, "referenceAllele": "T", "start": 3529 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "ENST00000449503.6:c.*1063T>A" ], "proteinEffect": { "hgvs": "ENSP00000412945.2:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS300252" }, { "coordinates": [ { "allele": "A", "end": 3946, "referenceAllele": "T", "start": 3945 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001304420.1:c.*1063T>A" ], "proteinEffect": { "hgvs": "NP_001291349.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS246819" }, { "coordinates": [ { "allele": "A", "end": 3946, "referenceAllele": "T", "start": 3945 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001304420.2:c.*1063T>A" ], "proteinEffect": { "hgvs": "NP_001291349.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS025668" }, { "coordinates": [ { "allele": "A", "end": 3832, "referenceAllele": "T", "start": 3831 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001304421.1:c.*1063T>A" ], "proteinEffect": { "hgvs": "NP_001291350.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS246821" }, { "coordinates": [ { "allele": "A", "end": 3832, "referenceAllele": "T", "start": 3831 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001304421.2:c.*1063T>A" ], "proteinEffect": { "hgvs": "NP_001291350.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS025669" }, { "coordinates": [ { "allele": "A", "end": 2428, "referenceAllele": "T", "start": 2427 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001304422.1:c.*1063T>A" ], "proteinEffect": { "hgvs": "NP_001291351.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS246817" }, { "coordinates": [ { "allele": "A", "end": 2428, "referenceAllele": "T", "start": 2427 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001304422.2:c.*1063T>A" ], "proteinEffect": { "hgvs": "NP_001291351.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS025670" }, { "coordinates": [ { "allele": "A", "end": 2230, "referenceAllele": "T", "start": 2229 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001304423.1:c.*1063T>A" ], "proteinEffect": { "hgvs": "NP_001291352.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS246823" }, { "coordinates": [ { "allele": "A", "end": 2230, "referenceAllele": "T", "start": 2229 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001304423.2:c.*1063T>A" ], "proteinEffect": { "hgvs": "NP_001291352.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS025671" }, { "coordinates": [ { "allele": "A", "end": 2518, "referenceAllele": "T", "start": 2517 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001311178.1:c.*1162T>A" ], "proteinEffect": { "hgvs": "NP_001298107.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS026417" }, { "coordinates": [ { "allele": "A", "end": 3895, "referenceAllele": "T", "start": 3894 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_007159.3:c.*1063T>A" ], "proteinEffect": { "hgvs": "NP_009090.2:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS246913" }, { "coordinates": [ { "allele": "A", "end": 3895, "referenceAllele": "T", "start": 3894 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_007159.4:c.*1063T>A" ], "proteinEffect": { "hgvs": "NP_009090.2:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS032091" }, { "coordinates": [ { "allele": "A", "end": 4833, "referenceAllele": "T", "start": 4832 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265456.3:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265513.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS064638" }, { "coordinates": [ { "allele": "A", "end": 4827, "referenceAllele": "T", "start": 4826 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265457.3:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265514.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS064639" }, { "coordinates": [ { "allele": "A", "end": 4923, "referenceAllele": "T", "start": 4922 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265458.3:c.*1162T>A" ], "proteinEffect": { "hgvs": "XP_005265515.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS064640" }, { "coordinates": [ { "allele": "A", "end": 4782, "referenceAllele": "T", "start": 4781 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265459.3:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265516.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS064641" }, { "coordinates": [ { "allele": "A", "end": 4782, "referenceAllele": "T", "start": 4781 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265460.3:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265517.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS064642" }, { "coordinates": [ { "allele": "A", "end": 4776, "referenceAllele": "T", "start": 4775 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265461.3:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265518.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS064643" }, { "coordinates": [ { "allele": "A", "end": 4770, "referenceAllele": "T", "start": 4769 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265462.3:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265519.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS064644" }, { "coordinates": [ { "allele": "A", "end": 4854, "referenceAllele": "T", "start": 4853 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265464.3:c.*1162T>A" ], "proteinEffect": { "hgvs": "XP_005265521.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS064645" }, { "coordinates": [ { "allele": "A", "end": 4731, "referenceAllele": "T", "start": 4730 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265465.3:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265522.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS064646" }, { "coordinates": [ { "allele": "A", "end": 4725, "referenceAllele": "T", "start": 4724 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265466.3:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265523.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS064647" }, { "coordinates": [ { "allele": "A", "end": 4719, "referenceAllele": "T", "start": 4718 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265467.3:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265524.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS064648" }, { "coordinates": [ { "allele": "A", "end": 4710, "referenceAllele": "T", "start": 4709 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265468.3:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265525.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS064649" }, { "coordinates": [ { "allele": "A", "end": 4668, "referenceAllele": "T", "start": 4667 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265470.3:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265527.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS064650" }, { "coordinates": [ { "allele": "A", "end": 4662, "referenceAllele": "T", "start": 4661 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265471.3:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265528.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS064651" }, { "coordinates": [ { "allele": "A", "end": 4596, "referenceAllele": "T", "start": 4595 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265472.3:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265529.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS064652" }, { "coordinates": [ { "allele": "A", "end": 4602, "referenceAllele": "T", "start": 4601 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_006713326.2:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_006713389.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS070109" }, { "coordinates": [ { "allele": "A", "end": 4719, "referenceAllele": "T", "start": 4718 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_011534103.1:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_011532405.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS101121" }, { "coordinates": [ { "allele": "A", "end": 4608, "referenceAllele": "T", "start": 4607 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_011534104.1:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_011532406.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS101122" }, { "coordinates": [ { "allele": "A", "end": 4545, "referenceAllele": "T", "start": 4544 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_011534105.1:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_011532407.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS101123" }, { "coordinates": [ { "allele": "A", "end": 2303, "referenceAllele": "T", "start": 2302 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_011534106.1:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_011532408.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS101124" }, { "coordinates": [ { "allele": "A", "end": 2150, "referenceAllele": "T", "start": 2149 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_011534107.1:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_011532409.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS101125" }, { "coordinates": [ { "allele": "A", "end": 4825, "referenceAllele": "T", "start": 4824 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265456.4:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265513.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS536055" }, { "coordinates": [ { "allele": "A", "end": 4819, "referenceAllele": "T", "start": 4818 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265457.4:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265514.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS536056" }, { "coordinates": [ { "allele": "A", "end": 4915, "referenceAllele": "T", "start": 4914 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265458.4:c.*1162T>A" ], "proteinEffect": { "hgvs": "XP_005265515.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS536057" }, { "coordinates": [ { "allele": "A", "end": 4774, "referenceAllele": "T", "start": 4773 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265459.4:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265516.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS536058" }, { "coordinates": [ { "allele": "A", "end": 4774, "referenceAllele": "T", "start": 4773 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265460.4:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265517.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS536059" }, { "coordinates": [ { "allele": "A", "end": 4768, "referenceAllele": "T", "start": 4767 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265461.4:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265518.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS536060" }, { "coordinates": [ { "allele": "A", "end": 4762, "referenceAllele": "T", "start": 4761 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265462.4:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265519.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS536061" }, { "coordinates": [ { "allele": "A", "end": 4846, "referenceAllele": "T", "start": 4845 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265464.4:c.*1162T>A" ], "proteinEffect": { "hgvs": "XP_005265521.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS536062" }, { "coordinates": [ { "allele": "A", "end": 4723, "referenceAllele": "T", "start": 4722 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265465.4:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265522.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS536063" }, { "coordinates": [ { "allele": "A", "end": 4717, "referenceAllele": "T", "start": 4716 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265466.4:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265523.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS536064" }, { "coordinates": [ { "allele": "A", "end": 4711, "referenceAllele": "T", "start": 4710 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265467.4:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265524.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS536065" }, { "coordinates": [ { "allele": "A", "end": 4702, "referenceAllele": "T", "start": 4701 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265468.4:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265525.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS536066" }, { "coordinates": [ { "allele": "A", "end": 4660, "referenceAllele": "T", "start": 4659 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265470.4:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265527.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS536067" }, { "coordinates": [ { "allele": "A", "end": 4654, "referenceAllele": "T", "start": 4653 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265471.4:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265528.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS536068" }, { "coordinates": [ { "allele": "A", "end": 4588, "referenceAllele": "T", "start": 4587 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_005265472.4:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_005265529.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS536069" }, { "coordinates": [ { "allele": "A", "end": 4594, "referenceAllele": "T", "start": 4593 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_006713326.3:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_006713389.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS538480" }, { "coordinates": [ { "allele": "A", "end": 4711, "referenceAllele": "T", "start": 4710 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_011534103.2:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_011532405.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS551515" }, { "coordinates": [ { "allele": "A", "end": 4600, "referenceAllele": "T", "start": 4599 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_011534104.2:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_011532406.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS551516" }, { "coordinates": [ { "allele": "A", "end": 4537, "referenceAllele": "T", "start": 4536 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_011534105.2:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_011532407.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS551517" }, { "coordinates": [ { "allele": "A", "end": 2303, "referenceAllele": "T", "start": 2302 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_011534106.2:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_011532408.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS551518" }, { "coordinates": [ { "allele": "A", "end": 4909, "referenceAllele": "T", "start": 4908 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007146.2:c.*1162T>A" ], "proteinEffect": { "hgvs": "XP_016862635.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561978" }, { "coordinates": [ { "allele": "A", "end": 4768, "referenceAllele": "T", "start": 4767 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007147.2:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_016862636.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561979" }, { "coordinates": [ { "allele": "A", "end": 4864, "referenceAllele": "T", "start": 4863 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007148.2:c.*1162T>A" ], "proteinEffect": { "hgvs": "XP_016862637.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561980" }, { "coordinates": [ { "allele": "A", "end": 4858, "referenceAllele": "T", "start": 4857 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007149.2:c.*1162T>A" ], "proteinEffect": { "hgvs": "XP_016862638.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561981" }, { "coordinates": [ { "allele": "A", "end": 4858, "referenceAllele": "T", "start": 4857 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007150.2:c.*1162T>A" ], "proteinEffect": { "hgvs": "XP_016862639.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561982" }, { "coordinates": [ { "allele": "A", "end": 4813, "referenceAllele": "T", "start": 4812 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007151.2:c.*1162T>A" ], "proteinEffect": { "hgvs": "XP_016862640.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561983" }, { "coordinates": [ { "allele": "A", "end": 4807, "referenceAllele": "T", "start": 4806 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007152.2:c.*1162T>A" ], "proteinEffect": { "hgvs": "XP_016862641.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561984" }, { "coordinates": [ { "allele": "A", "end": 4705, "referenceAllele": "T", "start": 4704 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007153.2:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_016862642.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561985" }, { "coordinates": [ { "allele": "A", "end": 4795, "referenceAllele": "T", "start": 4794 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007154.2:c.*1162T>A" ], "proteinEffect": { "hgvs": "XP_016862643.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561986" }, { "coordinates": [ { "allele": "A", "end": 4696, "referenceAllele": "T", "start": 4695 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007155.2:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_016862644.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561987" }, { "coordinates": [ { "allele": "A", "end": 4792, "referenceAllele": "T", "start": 4791 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007156.2:c.*1162T>A" ], "proteinEffect": { "hgvs": "XP_016862645.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561988" }, { "coordinates": [ { "allele": "A", "end": 4786, "referenceAllele": "T", "start": 4785 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007157.2:c.*1162T>A" ], "proteinEffect": { "hgvs": "XP_016862646.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561989" }, { "coordinates": [ { "allele": "A", "end": 4750, "referenceAllele": "T", "start": 4749 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007158.2:c.*1162T>A" ], "proteinEffect": { "hgvs": "XP_016862647.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561990" }, { "coordinates": [ { "allele": "A", "end": 4651, "referenceAllele": "T", "start": 4650 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007159.2:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_016862648.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561991" }, { "coordinates": [ { "allele": "A", "end": 4744, "referenceAllele": "T", "start": 4743 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007160.2:c.*1162T>A" ], "proteinEffect": { "hgvs": "XP_016862649.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561992" }, { "coordinates": [ { "allele": "A", "end": 4645, "referenceAllele": "T", "start": 4644 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007161.2:c.*1063T>A" ], "proteinEffect": { "hgvs": "XP_016862650.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561993" }, { "coordinates": [ { "allele": "A", "end": 4741, "referenceAllele": "T", "start": 4740 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007162.2:c.*1162T>A" ], "proteinEffect": { "hgvs": "XP_016862651.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561994" }, { "coordinates": [ { "allele": "A", "end": 4735, "referenceAllele": "T", "start": 4734 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007163.2:c.*1162T>A" ], "proteinEffect": { "hgvs": "XP_016862652.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561995" }, { "coordinates": [ { "allele": "A", "end": 4684, "referenceAllele": "T", "start": 4683 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007164.2:c.*1162T>A" ], "proteinEffect": { "hgvs": "XP_016862653.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561996" }, { "coordinates": [ { "allele": "A", "end": 4672, "referenceAllele": "T", "start": 4671 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007165.2:c.*1162T>A" ], "proteinEffect": { "hgvs": "XP_016862654.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561997" }, { "coordinates": [ { "allele": "A", "end": 4672, "referenceAllele": "T", "start": 4671 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007166.2:c.*1162T>A" ], "proteinEffect": { "hgvs": "XP_016862655.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561998" }, { "coordinates": [ { "allele": "A", "end": 4627, "referenceAllele": "T", "start": 4626 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007167.2:c.*1162T>A" ], "proteinEffect": { "hgvs": "XP_016862656.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561999" }, { "coordinates": [ { "allele": "A", "end": 4621, "referenceAllele": "T", "start": 4620 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007168.2:c.*1162T>A" ], "proteinEffect": { "hgvs": "XP_016862657.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS562000" }, { "coordinates": [ { "allele": "A", "end": 2393, "referenceAllele": "T", "start": 2392 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XM_017007170.2:c.*1162T>A" ], "proteinEffect": { "hgvs": "XP_016862659.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS562002" }, { "coordinates": [ { "allele": "A", "end": 5040, "referenceAllele": "T", "start": 5039 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XR_001740259.2:n.5040T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS590470" }, { "coordinates": [ { "allele": "A", "end": 4950, "referenceAllele": "T", "start": 4949 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XR_001740260.2:n.4950T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS590471" }, { "coordinates": [ { "allele": "A", "end": 4917, "referenceAllele": "T", "start": 4916 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XR_001740261.2:n.4917T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS590472" }, { "coordinates": [ { "allele": "A", "end": 4911, "referenceAllele": "T", "start": 4910 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XR_001740262.2:n.4911T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS590473" }, { "coordinates": [ { "allele": "A", "end": 4977, "referenceAllele": "T", "start": 4976 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "XR_001740263.2:n.4977T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS590474" }, { "coordinates": [ { "allele": "A", "end": 2340, "referenceAllele": "T", "start": 2339 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001304422.3:c.*1063T>A" ], "proteinEffect": { "hgvs": "NP_001291351.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS683667" }, { "coordinates": [ { "allele": "A", "end": 2142, "referenceAllele": "T", "start": 2141 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001304423.3:c.*1063T>A" ], "proteinEffect": { "hgvs": "NP_001291352.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS683668" }, { "coordinates": [ { "allele": "A", "end": 4688, "referenceAllele": "T", "start": 4687 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001304420.3:c.*1063T>A" ], "proteinEffect": { "hgvs": "NP_001291349.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS717091" }, { "coordinates": [ { "allele": "A", "end": 2430, "referenceAllele": "T", "start": 2429 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001311178.2:c.*1162T>A" ], "proteinEffect": { "hgvs": "NP_001298107.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS717317" }, { "coordinates": [ { "allele": "A", "end": 4760, "referenceAllele": "T", "start": 4759 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001377538.1:c.*1063T>A" ], "proteinEffect": { "hgvs": "NP_001364467.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721279" }, { "coordinates": [ { "allele": "A", "end": 4739, "referenceAllele": "T", "start": 4738 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001377539.1:c.*1063T>A" ], "proteinEffect": { "hgvs": "NP_001364468.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721280" }, { "coordinates": [ { "allele": "A", "end": 4829, "referenceAllele": "T", "start": 4828 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001377540.1:c.*1162T>A" ], "proteinEffect": { "hgvs": "NP_001364469.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721281", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000671191.1:c.*1162T>A" }, "RefSeq": { "hgvs": "NM_001377540.1:c.*1162T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000499458.1:n.*1162T>A" }, "RefSeq": { "hgvs": "NP_001364469.1:n.*1162T>A" } } } }, { "coordinates": [ { "allele": "A", "end": 4778, "referenceAllele": "T", "start": 4777 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001377541.1:c.*1162T>A" ], "proteinEffect": { "hgvs": "NP_001364470.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721282" }, { "coordinates": [ { "allele": "A", "end": 4778, "referenceAllele": "T", "start": 4777 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001377542.1:c.*1162T>A" ], "proteinEffect": { "hgvs": "NP_001364471.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721283" }, { "coordinates": [ { "allele": "A", "end": 4766, "referenceAllele": "T", "start": 4765 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001377545.1:c.*1162T>A" ], "proteinEffect": { "hgvs": "NP_001364474.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721286" }, { "coordinates": [ { "allele": "A", "end": 4727, "referenceAllele": "T", "start": 4726 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001377549.1:c.*1162T>A" ], "proteinEffect": { "hgvs": "NP_001364478.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721290" }, { "coordinates": [ { "allele": "A", "end": 4625, "referenceAllele": "T", "start": 4624 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001377551.1:c.*1063T>A" ], "proteinEffect": { "hgvs": "NP_001364480.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721292" }, { "coordinates": [ { "allele": "A", "end": 4715, "referenceAllele": "T", "start": 4714 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001377552.1:c.*1162T>A" ], "proteinEffect": { "hgvs": "NP_001364481.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721293" }, { "coordinates": [ { "allele": "A", "end": 4706, "referenceAllele": "T", "start": 4705 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001377555.1:c.*1162T>A" ], "proteinEffect": { "hgvs": "NP_001364484.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721296" }, { "coordinates": [ { "allele": "A", "end": 4574, "referenceAllele": "T", "start": 4573 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001377557.1:c.*1063T>A" ], "proteinEffect": { "hgvs": "NP_001364486.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721298" }, { "coordinates": [ { "allele": "A", "end": 4664, "referenceAllele": "T", "start": 4663 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001377559.1:c.*1162T>A" ], "proteinEffect": { "hgvs": "NP_001364488.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721300" }, { "coordinates": [ { "allele": "A", "end": 4655, "referenceAllele": "T", "start": 4654 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001377562.1:c.*1162T>A" ], "proteinEffect": { "hgvs": "NP_001364491.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721303" }, { "coordinates": [ { "allele": "A", "end": 4655, "referenceAllele": "T", "start": 4654 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001377921.1:c.*1162T>A" ], "proteinEffect": { "hgvs": "NP_001364850.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721304" }, { "coordinates": [ { "allele": "A", "end": 4643, "referenceAllele": "T", "start": 4642 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001377922.1:c.*1162T>A" ], "proteinEffect": { "hgvs": "NP_001364851.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721305" }, { "coordinates": [ { "allele": "A", "end": 4604, "referenceAllele": "T", "start": 4603 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001377923.1:c.*1162T>A" ], "proteinEffect": { "hgvs": "NP_001364852.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721306" }, { "coordinates": [ { "allele": "A", "end": 4592, "referenceAllele": "T", "start": 4591 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001377924.1:c.*1162T>A" ], "proteinEffect": { "hgvs": "NP_001364853.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721307" }, { "coordinates": [ { "allele": "A", "end": 4541, "referenceAllele": "T", "start": 4540 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001377925.1:c.*1162T>A" ], "proteinEffect": { "hgvs": "NP_001364854.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721308" }, { "coordinates": [ { "allele": "A", "end": 2217, "referenceAllele": "T", "start": 2216 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001377926.1:c.*1063T>A" ], "proteinEffect": { "hgvs": "NP_001364855.1:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721309" }, { "coordinates": [ { "allele": "A", "end": 2307, "referenceAllele": "T", "start": 2306 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_001377927.1:c.*1162T>A" ], "proteinEffect": { "hgvs": "NP_001364856.1:n.*1162T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721310" }, { "coordinates": [ { "allele": "A", "end": 4637, "referenceAllele": "T", "start": 4636 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NM_007159.5:c.*1063T>A" ], "proteinEffect": { "hgvs": "NP_009090.2:n.*1063T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS727813" }, { "coordinates": [ { "allele": "A", "end": 4735, "referenceAllele": "T", "start": 4734 } ], "gene": "http://reg.genome.network/gene/GN016643", "geneNCBI_id": 7871, "geneSymbol": "SLMAP", "hgvs": [ "NR_165328.1:n.4735T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731628" } ], "type": "nucleotide" }