Canonical Allele Identifier: CA252183
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 2289
ClinVar RCV Id: RCV000002379 RCV000644828 RCV000724322 RCV000789615
dbSNP Id: rs29001584
MyVariant Identifiers: chr9:g.135205819A>G (hg19) chr9:g.132330432A>G (hg38)
PubMed: PMID:9497266 PMID:15106121 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132330432A>G , CM000671.2:g.132330432A>G GRCh38
NC_000009.11:g.135205819A>G , CM000671.1:g.135205819A>G GRCh37
NC_000009.10:g.134195640A>G NCBI36
NG_007946.1:g.29554T>C , LRG_268:g.29554T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000224140.6:c.1166T>C MANE Select ENSP00000224140.5:p.Leu389Ser
ENST00000224140.5:c.1166T>C ENSP00000224140.5:p.Leu389Ser
NM_015046.5:c.1166T>C , LRG_268t1:c.1166T>C NP_055861.3:p.Leu389Ser
XM_005272171.1:c.1166T>C XP_005272228.1:p.Leu389Ser
XM_005272172.1:c.1166T>C XP_005272229.1:p.Leu389Ser
XM_005272173.1:c.1166T>C XP_005272230.1:p.Leu389Ser
XM_011518404.1:c.1166T>C XP_011516706.1:p.Leu389Ser
XM_011518405.1:c.1166T>C XP_011516707.1:p.Leu389Ser
XM_011518406.1:c.1166T>C XP_011516708.1:p.Leu389Ser
XM_011518407.1:c.1166T>C XP_011516709.1:p.Leu389Ser
XM_011518408.1:c.1166T>C XP_011516710.1:p.Leu389Ser
XR_929739.1:n.1350T>C
NM_001351527.1:c.1166T>C NP_001338456.1:p.Leu389Ser
NM_001351528.1:c.1166T>C NP_001338457.1:p.Leu389Ser
NM_015046.6:c.1166T>C NP_055861.3:p.Leu389Ser
XM_005272172.3:c.1166T>C XP_005272229.1:p.Leu389Ser
XM_005272173.3:c.1166T>C XP_005272230.1:p.Leu389Ser
XM_011518404.3:c.1166T>C XP_011516706.1:p.Leu389Ser
XM_011518405.3:c.1166T>C XP_011516707.1:p.Leu389Ser
XM_011518406.2:c.1166T>C XP_011516708.1:p.Leu389Ser
XM_011518408.3:c.1166T>C XP_011516710.1:p.Leu389Ser
XR_001746251.1:n.1350T>C
XR_929739.2:n.1350T>C
NM_015046.7:c.1166T>C MANE Select NP_055861.3:p.Leu389Ser
NM_001351528.2:c.1166T>C NP_001338457.1:p.Leu389Ser
NM_001351527.2:c.1166T>C NP_001338456.1:p.Leu389Ser
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