Canonical Allele Identifier: CA5296454

Gene: SETX

Linked Data

• ClinVar Variation Id: 365345
• ClinVar RCV Id: RCV000272756 ; RCV000327969 ; RCV002523742
• dbSNP Id: rs769170686
• ExAC: 9:135144993 G / T
• gnomAD v2: 9-135144993-G-T
• gnomAD v3: 9-132269606-G-T
• gnomAD v4: 9-132269606-G-T
• MyVariant Identifiers: chr9:g.135144993G>T (hg19) ; chr9:g.132269606G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132269606G>T , CM000671.2:g.132269606G>T	GRCh38
NC_000009.11:g.135144993G>T , CM000671.1:g.135144993G>T	GRCh37
NC_000009.10:g.134134814G>T	NCBI36
NG_007946.1:g.90380C>A , LRG_268:g.90380C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.7287+9C>A MANE Select	ENSP00000224140.5:n.7287+9C>A
ENST00000224140.5:c.7287+9C>A	ENSP00000224140.5:n.7287+9C>A
ENST00000436441.5:c.2013+9C>A	ENSP00000409143.1:n.2013+9C>A
ENST00000477049.1:n.314+9C>A
NM_015046.5:c.7287+9C>A , LRG_268t1:c.7287+9C>A	NP_055861.3:n.7287+9C>A
XM_005272171.1:c.7287+9C>A	XP_005272228.1:n.7287+9C>A
XM_005272172.1:c.7287+9C>A	XP_005272229.1:n.7287+9C>A
XM_005272173.1:c.7287+9C>A	XP_005272230.1:n.7287+9C>A
XM_011518404.1:c.7287+9C>A	XP_011516706.1:n.7287+9C>A
XM_011518405.1:c.7287+9C>A	XP_011516707.1:n.7287+9C>A
XR_929739.1:n.7203+9C>A
NM_001351527.1:c.7287+9C>A	NP_001338456.1:n.7287+9C>A
NM_001351528.1:c.7287+9C>A	NP_001338457.1:n.7287+9C>A
NM_015046.6:c.7287+9C>A	NP_055861.3:n.7287+9C>A
XM_005272172.3:c.7287+9C>A	XP_005272229.1:n.7287+9C>A
XM_005272173.3:c.7287+9C>A	XP_005272230.1:n.7287+9C>A
XM_011518404.3:c.7287+9C>A	XP_011516706.1:n.7287+9C>A
XM_011518405.3:c.7287+9C>A	XP_011516707.1:n.7287+9C>A
XM_017014496.1:c.1740+9C>A	XP_016869985.1:n.1740+9C>A
XR_001746251.1:n.6842+9C>A
XR_929739.2:n.7203+9C>A
NM_015046.7:c.7287+9C>A MANE Select	NP_055861.3:n.7287+9C>A
NM_001351528.2:c.7287+9C>A	NP_001338457.1:n.7287+9C>A
NM_001351527.2:c.7287+9C>A	NP_001338456.1:n.7287+9C>A