Canonical Allele Identifier: CA5297297

Gene: SETX

Linked Data

• ClinVar Variation Id: 653482
• ClinVar RCV Id: RCV000809266
• dbSNP Id: rs771168824
• ExAC: 9:135203030 C / T
• gnomAD v2: 9-135203030-C-T
• gnomAD v3: 9-132327643-C-T
• gnomAD v4: 9-132327643-C-T
• MyVariant Identifiers: chr9:g.135203030C>T (hg19) ; chr9:g.132327643C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132327643C>T , CM000671.2:g.132327643C>T	GRCh38
NC_000009.11:g.135203030C>T , CM000671.1:g.135203030C>T	GRCh37
NC_000009.10:g.134192851C>T	NCBI36
NG_007946.1:g.32343G>A , LRG_268:g.32343G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.3955G>A MANE Select	ENSP00000224140.5:p.Val1319Ile
ENST00000224140.5:c.3955G>A	ENSP00000224140.5:p.Val1319Ile
NM_015046.5:c.3955G>A , LRG_268t1:c.3955G>A	NP_055861.3:p.Val1319Ile
XM_005272171.1:c.3955G>A	XP_005272228.1:p.Val1319Ile
XM_005272172.1:c.3955G>A	XP_005272229.1:p.Val1319Ile
XM_005272173.1:c.3955G>A	XP_005272230.1:p.Val1319Ile
XM_011518404.1:c.3955G>A	XP_011516706.1:p.Val1319Ile
XM_011518405.1:c.3955G>A	XP_011516707.1:p.Val1319Ile
XM_011518406.1:c.3955G>A	XP_011516708.1:p.Val1319Ile
XM_011518407.1:c.3955G>A	XP_011516709.1:p.Val1319Ile
XM_011518408.1:c.3955G>A	XP_011516710.1:p.Val1319Ile
XR_929739.1:n.4139G>A
NM_001351527.1:c.3955G>A	NP_001338456.1:p.Val1319Ile
NM_001351528.1:c.3955G>A	NP_001338457.1:p.Val1319Ile
NM_015046.6:c.3955G>A	NP_055861.3:p.Val1319Ile
XM_005272172.3:c.3955G>A	XP_005272229.1:p.Val1319Ile
XM_005272173.3:c.3955G>A	XP_005272230.1:p.Val1319Ile
XM_011518404.3:c.3955G>A	XP_011516706.1:p.Val1319Ile
XM_011518405.3:c.3955G>A	XP_011516707.1:p.Val1319Ile
XM_011518406.2:c.3955G>A	XP_011516708.1:p.Val1319Ile
XM_011518408.3:c.3955G>A	XP_011516710.1:p.Val1319Ile
XR_001746251.1:n.4139G>A
XR_929739.2:n.4139G>A
NM_015046.7:c.3955G>A MANE Select	NP_055861.3:p.Val1319Ile
NM_001351528.2:c.3955G>A	NP_001338457.1:p.Val1319Ile
NM_001351527.2:c.3955G>A	NP_001338456.1:p.Val1319Ile