Canonical Allele Identifier: CA5297445

Gene: SETX

Linked Data

• ClinVar Variation Id: 424687
• ClinVar RCV Id: RCV000515959 ; RCV000517650 ; RCV001082564 ; RCV001167391 ; RCV001168005 ; RCV001283502 ; RCV002446949 ; RCV003105922 ; RCV004535538
• dbSNP Id: rs145097270
• ExAC: 9:135203756 C / T
• gnomAD v2: 9-135203756-C-T
• gnomAD v3: 9-132328369-C-T
• gnomAD v4: 9-132328369-C-T
• COSMIC: COSM3699492 ; COSM3699493
• MyVariant Identifiers: chr9:g.135203756C>T (hg19) ; chr9:g.132328369C>T (hg38)
• PubMed: PMID:18058631 ; PMID:23129421 ; PMID:23881933 ; PMID:27790088 ; PMID:28832565

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132328369C>T , CM000671.2:g.132328369C>T	GRCh38
NC_000009.11:g.135203756C>T , CM000671.1:g.135203756C>T	GRCh37
NC_000009.10:g.134193577C>T	NCBI36
NG_007946.1:g.31617G>A , LRG_268:g.31617G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.3229G>A MANE Select	ENSP00000224140.5:p.Asp1077Asn
ENST00000224140.5:c.3229G>A	ENSP00000224140.5:p.Asp1077Asn
NM_015046.5:c.3229G>A , LRG_268t1:c.3229G>A	NP_055861.3:p.Asp1077Asn
XM_005272171.1:c.3229G>A	XP_005272228.1:p.Asp1077Asn
XM_005272172.1:c.3229G>A	XP_005272229.1:p.Asp1077Asn
XM_005272173.1:c.3229G>A	XP_005272230.1:p.Asp1077Asn
XM_011518404.1:c.3229G>A	XP_011516706.1:p.Asp1077Asn
XM_011518405.1:c.3229G>A	XP_011516707.1:p.Asp1077Asn
XM_011518406.1:c.3229G>A	XP_011516708.1:p.Asp1077Asn
XM_011518407.1:c.3229G>A	XP_011516709.1:p.Asp1077Asn
XM_011518408.1:c.3229G>A	XP_011516710.1:p.Asp1077Asn
XR_929739.1:n.3413G>A
NM_001351527.1:c.3229G>A	NP_001338456.1:p.Asp1077Asn
NM_001351528.1:c.3229G>A	NP_001338457.1:p.Asp1077Asn
NM_015046.6:c.3229G>A	NP_055861.3:p.Asp1077Asn
XM_005272172.3:c.3229G>A	XP_005272229.1:p.Asp1077Asn
XM_005272173.3:c.3229G>A	XP_005272230.1:p.Asp1077Asn
XM_011518404.3:c.3229G>A	XP_011516706.1:p.Asp1077Asn
XM_011518405.3:c.3229G>A	XP_011516707.1:p.Asp1077Asn
XM_011518406.2:c.3229G>A	XP_011516708.1:p.Asp1077Asn
XM_011518408.3:c.3229G>A	XP_011516710.1:p.Asp1077Asn
XR_001746251.1:n.3413G>A
XR_929739.2:n.3413G>A
NM_015046.7:c.3229G>A MANE Select	NP_055861.3:p.Asp1077Asn
NM_001351528.2:c.3229G>A	NP_001338457.1:p.Asp1077Asn
NM_001351527.2:c.3229G>A	NP_001338456.1:p.Asp1077Asn