Canonical Allele Identifier: CA233093

Gene: SETX

Linked Data

• ClinVar Variation Id: 155743
• ClinVar RCV Id: RCV000143814 ; RCV000794428 ; RCV002408640 ; RCV004544322
• dbSNP Id: rs139200312
• ExAC: 9:135205116 T / G
• gnomAD v2: 9-135205116-T-G
• gnomAD v3: 9-132329729-T-G
• gnomAD v4: 9-132329729-T-G
• MyVariant Identifiers: chr9:g.135205116T>G (hg19) ; chr9:g.132329729T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132329729T>G , CM000671.2:g.132329729T>G	GRCh38
NC_000009.11:g.135205116T>G , CM000671.1:g.135205116T>G	GRCh37
NC_000009.10:g.134194937T>G	NCBI36
NG_007946.1:g.30257A>C , LRG_268:g.30257A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.1869A>C MANE Select	ENSP00000224140.5:p.Glu623Asp
ENST00000224140.5:c.1869A>C	ENSP00000224140.5:p.Glu623Asp
NM_015046.5:c.1869A>C , LRG_268t1:c.1869A>C	NP_055861.3:p.Glu623Asp
XM_005272171.1:c.1869A>C	XP_005272228.1:p.Glu623Asp
XM_005272172.1:c.1869A>C	XP_005272229.1:p.Glu623Asp
XM_005272173.1:c.1869A>C	XP_005272230.1:p.Glu623Asp
XM_011518404.1:c.1869A>C	XP_011516706.1:p.Glu623Asp
XM_011518405.1:c.1869A>C	XP_011516707.1:p.Glu623Asp
XM_011518406.1:c.1869A>C	XP_011516708.1:p.Glu623Asp
XM_011518407.1:c.1869A>C	XP_011516709.1:p.Glu623Asp
XM_011518408.1:c.1869A>C	XP_011516710.1:p.Glu623Asp
XR_929739.1:n.2053A>C
NM_001351527.1:c.1869A>C	NP_001338456.1:p.Glu623Asp
NM_001351528.1:c.1869A>C	NP_001338457.1:p.Glu623Asp
NM_015046.6:c.1869A>C	NP_055861.3:p.Glu623Asp
XM_005272172.3:c.1869A>C	XP_005272229.1:p.Glu623Asp
XM_005272173.3:c.1869A>C	XP_005272230.1:p.Glu623Asp
XM_011518404.3:c.1869A>C	XP_011516706.1:p.Glu623Asp
XM_011518405.3:c.1869A>C	XP_011516707.1:p.Glu623Asp
XM_011518406.2:c.1869A>C	XP_011516708.1:p.Glu623Asp
XM_011518408.3:c.1869A>C	XP_011516710.1:p.Glu623Asp
XR_001746251.1:n.2053A>C
XR_929739.2:n.2053A>C
NM_015046.7:c.1869A>C MANE Select	NP_055861.3:p.Glu623Asp
NM_001351528.2:c.1869A>C	NP_001338457.1:p.Glu623Asp
NM_001351527.2:c.1869A>C	NP_001338456.1:p.Glu623Asp