Canonical Allele Identifier: CA5296314

Gene: SETX

Linked Data

• ClinVar Variation Id: 365339
• ClinVar RCV Id: RCV000328640 ; RCV000383186 ; RCV000699627 ; RCV000999251
• dbSNP Id: rs543247171
• ExAC: 9:135139846 C / T
• gnomAD v2: 9-135139846-C-T
• gnomAD v3: 9-132264459-C-T
• gnomAD v4: 9-132264459-C-T
• MyVariant Identifiers: chr9:g.135139846C>T (hg19) ; chr9:g.132264459C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132264459C>T , CM000671.2:g.132264459C>T	GRCh38
NC_000009.11:g.135139846C>T , CM000671.1:g.135139846C>T	GRCh37
NC_000009.10:g.134129667C>T	NCBI36
NG_007946.1:g.95527G>A , LRG_268:g.95527G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.7814G>A MANE Select	ENSP00000224140.5:p.Arg2605Gln
ENST00000224140.5:c.7814G>A	ENSP00000224140.5:p.Arg2605Gln
ENST00000436441.5:c.2627G>A	ENSP00000409143.1:p.Arg876Gln
ENST00000477049.1:n.964G>A
NM_015046.5:c.7814G>A , LRG_268t1:c.7814G>A	NP_055861.3:p.Arg2605Gln
XM_005272171.1:c.7901G>A	XP_005272228.1:p.Arg2634Gln
XM_005272172.1:c.7901G>A	XP_005272229.1:p.Arg2634Gln
XM_005272173.1:c.7901G>A	XP_005272230.1:p.Arg2634Gln
XM_011518404.1:c.7901G>A	XP_011516706.1:p.Arg2634Gln
XM_011518405.1:c.7901G>A	XP_011516707.1:p.Arg2634Gln
XR_929739.1:n.7730G>A
NM_001351527.1:c.7814G>A	NP_001338456.1:p.Arg2605Gln
NM_001351528.1:c.7901G>A	NP_001338457.1:p.Arg2634Gln
NM_015046.6:c.7814G>A	NP_055861.3:p.Arg2605Gln
XM_005272172.3:c.7901G>A	XP_005272229.1:p.Arg2634Gln
XM_005272173.3:c.7901G>A	XP_005272230.1:p.Arg2634Gln
XM_011518404.3:c.7901G>A	XP_011516706.1:p.Arg2634Gln
XM_011518405.3:c.7901G>A	XP_011516707.1:p.Arg2634Gln
XM_017014496.1:c.2354G>A	XP_016869985.1:p.Arg785Gln
XR_001746251.1:n.7369G>A
XR_929739.2:n.7730G>A
NM_015046.7:c.7814G>A MANE Select	NP_055861.3:p.Arg2605Gln
NM_001351528.2:c.7901G>A	NP_001338457.1:p.Arg2634Gln
NM_001351527.2:c.7814G>A	NP_001338456.1:p.Arg2605Gln