Canonical Allele Identifier: CA16605391
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 378574
ClinVar RCV Id: RCV000440159 RCV001861495
dbSNP Id: rs1057520367
COSMIC: COSM3905094 COSM3905095
MyVariant Identifiers: chr9:g.135224793G>A (hg19) chr9:g.132349406G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132349406G>A , CM000671.2:g.132349406G>A GRCh38
NC_000009.11:g.135224793G>A , CM000671.1:g.135224793G>A GRCh37
NC_000009.10:g.134214614G>A NCBI36
NG_007946.1:g.10580C>T , LRG_268:g.10580C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000224140.6:c.23C>T MANE Select ENSP00000224140.5:p.Thr8Met
ENST00000224140.5:c.23C>T ENSP00000224140.5:p.Thr8Met
NM_015046.5:c.23C>T , LRG_268t1:c.23C>T NP_055861.3:p.Thr8Met
XM_005272171.1:c.23C>T XP_005272228.1:p.Thr8Met
XM_005272172.1:c.23C>T XP_005272229.1:p.Thr8Met
XM_005272173.1:c.23C>T XP_005272230.1:p.Thr8Met
XM_011518404.1:c.23C>T XP_011516706.1:p.Thr8Met
XM_011518405.1:c.23C>T XP_011516707.1:p.Thr8Met
XM_011518406.1:c.23C>T XP_011516708.1:p.Thr8Met
XM_011518407.1:c.23C>T XP_011516709.1:p.Thr8Met
XM_011518408.1:c.23C>T XP_011516710.1:p.Thr8Met
XR_929739.1:n.207C>T
NM_001351527.1:c.23C>T NP_001338456.1:p.Thr8Met
NM_001351528.1:c.23C>T NP_001338457.1:p.Thr8Met
NM_015046.6:c.23C>T NP_055861.3:p.Thr8Met
XM_005272172.3:c.23C>T XP_005272229.1:p.Thr8Met
XM_005272173.3:c.23C>T XP_005272230.1:p.Thr8Met
XM_011518404.3:c.23C>T XP_011516706.1:p.Thr8Met
XM_011518405.3:c.23C>T XP_011516707.1:p.Thr8Met
XM_011518406.2:c.23C>T XP_011516708.1:p.Thr8Met
XM_011518408.3:c.23C>T XP_011516710.1:p.Thr8Met
XR_001746251.1:n.207C>T
XR_929739.2:n.207C>T
NM_015046.7:c.23C>T MANE Select NP_055861.3:p.Thr8Met
NM_001351528.2:c.23C>T NP_001338457.1:p.Thr8Met
NM_001351527.2:c.23C>T NP_001338456.1:p.Thr8Met
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