Canonical Allele Identifier: CA10632567

Gene: SETX

Linked Data

• ClinVar Variation Id: 365309
• ClinVar RCV Id: RCV000290702 ; RCV000385225
• dbSNP Id: rs886063547
• MyVariant Identifiers: chr9:g.135137624T>C (hg19) ; chr9:g.132262237T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132262237T>C , CM000671.2:g.132262237T>C	GRCh38
NC_000009.11:g.135137624T>C , CM000671.1:g.135137624T>C	GRCh37
NC_000009.10:g.134127445T>C	NCBI36
NG_007946.1:g.97749A>G , LRG_268:g.97749A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.*2002A>G MANE Select	ENSP00000224140.5:n.*2002A>G
ENST00000224140.5:c.*2002A>G	ENSP00000224140.5:n.*2002A>G
ENST00000436441.5:c.4849A>G	ENSP00000409143.1:n.4849A>G
ENST00000477049.1:n.3186A>G
NM_015046.5:c.*2002A>G , LRG_268t1:c.*2002A>G	NP_055861.3:n.*2002A>G
XM_005272171.1:c.*2002A>G	XP_005272228.1:n.*2002A>G
XM_005272172.1:c.*2002A>G	XP_005272229.1:n.*2002A>G
XM_005272173.1:c.*2002A>G	XP_005272230.1:n.*2002A>G
XM_011518404.1:c.*2002A>G	XP_011516706.1:n.*2002A>G
XM_011518405.1:c.*2002A>G	XP_011516707.1:n.*2002A>G
XR_929739.1:n.9952A>G
NM_001351527.1:c.*2002A>G	NP_001338456.1:n.*2002A>G
NM_001351528.1:c.*2002A>G	NP_001338457.1:n.*2002A>G
NM_015046.6:c.*2002A>G	NP_055861.3:n.*2002A>G
XM_017014496.1:c.*2002A>G	XP_016869985.1:n.*2002A>G
XR_001746251.1:n.9591A>G
XR_929739.2:n.9952A>G
NM_015046.7:c.*2002A>G MANE Select	NP_055861.3:n.*2002A>G
NM_001351528.2:c.*2002A>G	NP_001338457.1:n.*2002A>G
NM_001351527.2:c.*2002A>G	NP_001338456.1:n.*2002A>G