Canonical Allele Identifier: CA10632880

Gene: SETX

Linked Data

• ClinVar Variation Id: 365307
• ClinVar RCV Id: RCV000320309 ; RCV000379463
• dbSNP Id: rs886063545
• MyVariant Identifiers: chr9:g.135137490T>A (hg19) ; chr9:g.132262103T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132262103T>A , CM000671.2:g.132262103T>A	GRCh38
NC_000009.11:g.135137490T>A , CM000671.1:g.135137490T>A	GRCh37
NC_000009.10:g.134127311T>A	NCBI36
NG_007946.1:g.97883A>T , LRG_268:g.97883A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.*2136A>T MANE Select	ENSP00000224140.5:n.*2136A>T
ENST00000224140.5:c.*2136A>T	ENSP00000224140.5:n.*2136A>T
ENST00000436441.5:c.4983A>T	ENSP00000409143.1:n.4983A>T
ENST00000477049.1:n.3320A>T
NM_015046.5:c.*2136A>T , LRG_268t1:c.*2136A>T	NP_055861.3:n.*2136A>T
XM_005272171.1:c.*2136A>T	XP_005272228.1:n.*2136A>T
XM_005272172.1:c.*2136A>T	XP_005272229.1:n.*2136A>T
XM_005272173.1:c.*2136A>T	XP_005272230.1:n.*2136A>T
XM_011518404.1:c.*2136A>T	XP_011516706.1:n.*2136A>T
XM_011518405.1:c.*2136A>T	XP_011516707.1:n.*2136A>T
XR_929739.1:n.10086A>T
NM_001351527.1:c.*2136A>T	NP_001338456.1:n.*2136A>T
NM_001351528.1:c.*2136A>T	NP_001338457.1:n.*2136A>T
NM_015046.6:c.*2136A>T	NP_055861.3:n.*2136A>T
XM_017014496.1:c.*2136A>T	XP_016869985.1:n.*2136A>T
XR_001746251.1:n.9725A>T
XR_929739.2:n.10086A>T
NM_015046.7:c.*2136A>T MANE Select	NP_055861.3:n.*2136A>T
NM_001351528.2:c.*2136A>T	NP_001338457.1:n.*2136A>T
NM_001351527.2:c.*2136A>T	NP_001338456.1:n.*2136A>T