Canonical Allele Identifier: CA5296390

Gene: SETX

Linked Data

• ClinVar Variation Id: 448346
• ClinVar RCV Id: RCV000518280 ; RCV000764810 ; RCV000624322 ; RCV001731743 ; RCV001702669 ; RCV004541621
• dbSNP Id: rs142303658
• ExAC: 9:135140228 T / C
• gnomAD v2: 9-135140228-T-C
• gnomAD v3: 9-132264841-T-C
• gnomAD v4: 9-132264841-T-C
• MyVariant Identifiers: chr9:g.135140228T>C (hg19) ; chr9:g.132264841T>C (hg38)
• PubMed: PMID:14770181 ; PMID:15106121 ; PMID:15732101 ; PMID:19696032

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132264841T>C , CM000671.2:g.132264841T>C	GRCh38
NC_000009.11:g.135140228T>C , CM000671.1:g.135140228T>C	GRCh37
NC_000009.10:g.134130049T>C	NCBI36
NG_007946.1:g.95145A>G , LRG_268:g.95145A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.7432A>G MANE Select	ENSP00000224140.5:p.Thr2478Ala
ENST00000224140.5:c.7432A>G	ENSP00000224140.5:p.Thr2478Ala
ENST00000436441.5:c.2245A>G	ENSP00000409143.1:p.Thr749Ala
ENST00000477049.1:n.582A>G
NM_015046.5:c.7432A>G , LRG_268t1:c.7432A>G	NP_055861.3:p.Thr2478Ala
XM_005272171.1:c.7519A>G	XP_005272228.1:p.Thr2507Ala
XM_005272172.1:c.7519A>G	XP_005272229.1:p.Thr2507Ala
XM_005272173.1:c.7519A>G	XP_005272230.1:p.Thr2507Ala
XM_011518404.1:c.7519A>G	XP_011516706.1:p.Thr2507Ala
XM_011518405.1:c.7519A>G	XP_011516707.1:p.Thr2507Ala
XR_929739.1:n.7348A>G
NM_001351527.1:c.7432A>G	NP_001338456.1:p.Thr2478Ala
NM_001351528.1:c.7519A>G	NP_001338457.1:p.Thr2507Ala
NM_015046.6:c.7432A>G	NP_055861.3:p.Thr2478Ala
XM_005272172.3:c.7519A>G	XP_005272229.1:p.Thr2507Ala
XM_005272173.3:c.7519A>G	XP_005272230.1:p.Thr2507Ala
XM_011518404.3:c.7519A>G	XP_011516706.1:p.Thr2507Ala
XM_011518405.3:c.7519A>G	XP_011516707.1:p.Thr2507Ala
XM_017014496.1:c.1972A>G	XP_016869985.1:p.Thr658Ala
XR_001746251.1:n.6987A>G
XR_929739.2:n.7348A>G
NM_015046.7:c.7432A>G MANE Select	NP_055861.3:p.Thr2478Ala
NM_001351528.2:c.7519A>G	NP_001338457.1:p.Thr2507Ala
NM_001351527.2:c.7432A>G	NP_001338456.1:p.Thr2478Ala