Canonical Allele Identifier: CA5296516

Gene: SETX

Linked Data

• ClinVar Variation Id: 468521
• ClinVar RCV Id: RCV001087251 ; RCV001165604 ; RCV001165603 ; RCV000713230 ; RCV004541718 ; RCV001848955
• dbSNP Id: rs200088320
• ExAC: 9:135150634 A / G
• gnomAD v2: 9-135150634-A-G
• gnomAD v3: 9-132275247-A-G
• gnomAD v4: 9-132275247-A-G
• MyVariant Identifiers: chr9:g.135150634A>G (hg19) ; chr9:g.132275247A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132275247A>G , CM000671.2:g.132275247A>G	GRCh38
NC_000009.11:g.135150634A>G , CM000671.1:g.135150634A>G	GRCh37
NC_000009.10:g.134140455A>G	NCBI36
NG_007946.1:g.84739T>C , LRG_268:g.84739T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.7100+9T>C MANE Select	ENSP00000224140.5:n.7100+9T>C
ENST00000224140.5:c.7100+9T>C	ENSP00000224140.5:n.7100+9T>C
ENST00000436441.5:c.1826+9T>C	ENSP00000409143.1:n.1826+9T>C
ENST00000464133.1:n.307T>C
ENST00000477049.1:n.127+9T>C
NM_015046.5:c.7100+9T>C , LRG_268t1:c.7100+9T>C	NP_055861.3:n.7100+9T>C
XM_005272171.1:c.7100+9T>C	XP_005272228.1:n.7100+9T>C
XM_005272172.1:c.7100+9T>C	XP_005272229.1:n.7100+9T>C
XM_005272173.1:c.7100+9T>C	XP_005272230.1:n.7100+9T>C
XM_011518404.1:c.7100+9T>C	XP_011516706.1:n.7100+9T>C
XM_011518405.1:c.7100+9T>C	XP_011516707.1:n.7100+9T>C
XM_011518406.1:c.7100+9T>C	XP_011516708.1:n.7100+9T>C
XM_011518407.1:c.7100+9T>C	XP_011516709.1:n.7100+9T>C
XR_929739.1:n.7016+9T>C
NM_001351527.1:c.7100+9T>C	NP_001338456.1:n.7100+9T>C
NM_001351528.1:c.7100+9T>C	NP_001338457.1:n.7100+9T>C
NM_015046.6:c.7100+9T>C	NP_055861.3:n.7100+9T>C
XM_005272172.3:c.7100+9T>C	XP_005272229.1:n.7100+9T>C
XM_005272173.3:c.7100+9T>C	XP_005272230.1:n.7100+9T>C
XM_011518404.3:c.7100+9T>C	XP_011516706.1:n.7100+9T>C
XM_011518405.3:c.7100+9T>C	XP_011516707.1:n.7100+9T>C
XM_011518406.2:c.7100+9T>C	XP_011516708.1:n.7100+9T>C
XM_017014496.1:c.1553+9T>C	XP_016869985.1:n.1553+9T>C
XR_001746251.1:n.6655+9T>C
XR_929739.2:n.7016+9T>C
NM_015046.7:c.7100+9T>C MANE Select	NP_055861.3:n.7100+9T>C
NM_001351528.2:c.7100+9T>C	NP_001338457.1:n.7100+9T>C
NM_001351527.2:c.7100+9T>C	NP_001338456.1:n.7100+9T>C