Canonical Allele Identifier: CA5296398

Gene: SETX

Linked Data

• ClinVar Variation Id: 365343
• ClinVar RCV Id: RCV000266732 ; RCV000361458 ; RCV002524586 ; RCV002379256 ; RCV004546488
• dbSNP Id: rs151304085
• ExAC: 9:135140254 A / G
• gnomAD v2: 9-135140254-A-G
• gnomAD v3: 9-132264867-A-G
• gnomAD v4: 9-132264867-A-G
• MyVariant Identifiers: chr9:g.135140254A>G (hg19) ; chr9:g.132264867A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132264867A>G , CM000671.2:g.132264867A>G	GRCh38
NC_000009.11:g.135140254A>G , CM000671.1:g.135140254A>G	GRCh37
NC_000009.10:g.134130075A>G	NCBI36
NG_007946.1:g.95119T>C , LRG_268:g.95119T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.7406T>C MANE Select	ENSP00000224140.5:p.Leu2469Pro
ENST00000224140.5:c.7406T>C	ENSP00000224140.5:p.Leu2469Pro
ENST00000436441.5:c.2219T>C	ENSP00000409143.1:p.Leu740Pro
ENST00000477049.1:n.556T>C
NM_015046.5:c.7406T>C , LRG_268t1:c.7406T>C	NP_055861.3:p.Leu2469Pro
XM_005272171.1:c.7493T>C	XP_005272228.1:p.Leu2498Pro
XM_005272172.1:c.7493T>C	XP_005272229.1:p.Leu2498Pro
XM_005272173.1:c.7493T>C	XP_005272230.1:p.Leu2498Pro
XM_011518404.1:c.7493T>C	XP_011516706.1:p.Leu2498Pro
XM_011518405.1:c.7493T>C	XP_011516707.1:p.Leu2498Pro
XR_929739.1:n.7322T>C
NM_001351527.1:c.7406T>C	NP_001338456.1:p.Leu2469Pro
NM_001351528.1:c.7493T>C	NP_001338457.1:p.Leu2498Pro
NM_015046.6:c.7406T>C	NP_055861.3:p.Leu2469Pro
XM_005272172.3:c.7493T>C	XP_005272229.1:p.Leu2498Pro
XM_005272173.3:c.7493T>C	XP_005272230.1:p.Leu2498Pro
XM_011518404.3:c.7493T>C	XP_011516706.1:p.Leu2498Pro
XM_011518405.3:c.7493T>C	XP_011516707.1:p.Leu2498Pro
XM_017014496.1:c.1946T>C	XP_016869985.1:p.Leu649Pro
XR_001746251.1:n.6961T>C
XR_929739.2:n.7322T>C
NM_015046.7:c.7406T>C MANE Select	NP_055861.3:p.Leu2469Pro
NM_001351528.2:c.7493T>C	NP_001338457.1:p.Leu2498Pro
NM_001351527.2:c.7406T>C	NP_001338456.1:p.Leu2469Pro