Canonical Allele Identifier: CA252189
Gene: SETX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2292
ClinVar RCV Id: RCV000002382
dbSNP Id: rs121434379

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132296909A>C , CM000671.2:g.132296909A>C GRCh38
NC_000009.10:g.134162117A>C NCBI36
NC_000009.11:g.135172296A>C , CM000671.1:g.135172296A>C GRCh37
NG_007946.1:g.63077T>G , LRG_268:g.63077T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000224140.5:c.5927T>G ENSP00000224140.5:p.Leu1976Arg
ENST00000436441.5:n.653T>G ENSP00000409143.1:p.Leu218Arg
NM_015046.5:c.5927T>G , LRG_268t1:c.5927T>G NP_055861.3:p.Leu1976Arg
XM_005272171.1:c.5927T>G XP_005272228.1:p.Leu1976Arg
XM_005272172.1:c.5927T>G XP_005272229.1:p.Leu1976Arg
XM_005272173.1:c.5927T>G XP_005272230.1:p.Leu1976Arg
XM_011518404.1:c.5927T>G XP_011516706.1:p.Leu1976Arg
XM_011518405.1:c.5927T>G XP_011516707.1:p.Leu1976Arg
XM_011518406.1:c.5927T>G XP_011516708.1:p.Leu1976Arg
XM_011518407.1:c.5927T>G XP_011516709.1:p.Leu1976Arg
XM_011518408.1:c.5927T>G XP_011516710.1:p.Leu1976Arg
XR_929739.1:n.5843T>G