Canonical Allele Identifier: CA5296343

Gene: SETX

Linked Data

• ClinVar Variation Id: 365341
• ClinVar RCV Id: RCV000335520 ; RCV000399643 ; RCV001509370 ; RCV001861344 ; RCV002402087
• dbSNP Id: rs144121978
• ExAC: 9:135139925 C / T
• gnomAD v2: 9-135139925-C-T
• gnomAD v3: 9-132264538-C-T
• gnomAD v4: 9-132264538-C-T
• MyVariant Identifiers: chr9:g.135139925C>T (hg19) ; chr9:g.132264538C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132264538C>T , CM000671.2:g.132264538C>T	GRCh38
NC_000009.11:g.135139925C>T , CM000671.1:g.135139925C>T	GRCh37
NC_000009.10:g.134129746C>T	NCBI36
NG_007946.1:g.95448G>A , LRG_268:g.95448G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.7735G>A MANE Select	ENSP00000224140.5:p.Val2579Ile
ENST00000224140.5:c.7735G>A	ENSP00000224140.5:p.Val2579Ile
ENST00000436441.5:c.2548G>A	ENSP00000409143.1:p.Val850Ile
ENST00000477049.1:n.885G>A
NM_015046.5:c.7735G>A , LRG_268t1:c.7735G>A	NP_055861.3:p.Val2579Ile
XM_005272171.1:c.7822G>A	XP_005272228.1:p.Val2608Ile
XM_005272172.1:c.7822G>A	XP_005272229.1:p.Val2608Ile
XM_005272173.1:c.7822G>A	XP_005272230.1:p.Val2608Ile
XM_011518404.1:c.7822G>A	XP_011516706.1:p.Val2608Ile
XM_011518405.1:c.7822G>A	XP_011516707.1:p.Val2608Ile
XR_929739.1:n.7651G>A
NM_001351527.1:c.7735G>A	NP_001338456.1:p.Val2579Ile
NM_001351528.1:c.7822G>A	NP_001338457.1:p.Val2608Ile
NM_015046.6:c.7735G>A	NP_055861.3:p.Val2579Ile
XM_005272172.3:c.7822G>A	XP_005272229.1:p.Val2608Ile
XM_005272173.3:c.7822G>A	XP_005272230.1:p.Val2608Ile
XM_011518404.3:c.7822G>A	XP_011516706.1:p.Val2608Ile
XM_011518405.3:c.7822G>A	XP_011516707.1:p.Val2608Ile
XM_017014496.1:c.2275G>A	XP_016869985.1:p.Val759Ile
XR_001746251.1:n.7290G>A
XR_929739.2:n.7651G>A
NM_015046.7:c.7735G>A MANE Select	NP_055861.3:p.Val2579Ile
NM_001351528.2:c.7822G>A	NP_001338457.1:p.Val2608Ile
NM_001351527.2:c.7735G>A	NP_001338456.1:p.Val2579Ile