Canonical Allele Identifier: CA252181
Gene: SETX HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.132331293G>A
GRCh37 chr9:g.135206680G>A
Revel Score:
ENST00000224140 (MANE Select) 0.453
ENST00000372169 0.453
ENST00000393220 0.453
gnomAD v2:
9:135206680 G / A
gnomAD v3:
9:132331293 G / A
gnomAD v4:
chr9-132331293-G-A
Joint Max Group AF 0.00000443 (AFR)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000002378
RCV000269785
ClinVar Variation:
2288
dbSNP:
29001665
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132331293G>A , CM000671.2:g.132331293G>A GRCh38
NC_000009.11:g.135206680G>A , CM000671.1:g.135206680G>A GRCh37
NC_000009.10:g.134196501G>A NCBI36
NG_007946.1:g.28693C>T , LRG_268:g.28693C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000224140.6:c.994C>T MANE Select ENSP00000224140.5:p.Arg332Trp
ENST00000224140.5:c.994C>T ENSP00000224140.5:p.Arg332Trp
NM_015046.5:c.994C>T , LRG_268t1:c.994C>T NP_055861.3:p.Arg332Trp
XM_005272171.1:c.994C>T XP_005272228.1:p.Arg332Trp
XM_005272172.1:c.994C>T XP_005272229.1:p.Arg332Trp
XM_005272173.1:c.994C>T XP_005272230.1:p.Arg332Trp
XM_011518404.1:c.994C>T XP_011516706.1:p.Arg332Trp
XM_011518405.1:c.994C>T XP_011516707.1:p.Arg332Trp
XM_011518406.1:c.994C>T XP_011516708.1:p.Arg332Trp
XM_011518407.1:c.994C>T XP_011516709.1:p.Arg332Trp
XM_011518408.1:c.994C>T XP_011516710.1:p.Arg332Trp
XR_929739.1:n.1178C>T
NM_001351527.1:c.994C>T NP_001338456.1:p.Arg332Trp
NM_001351528.1:c.994C>T NP_001338457.1:p.Arg332Trp
NM_015046.6:c.994C>T NP_055861.3:p.Arg332Trp
XM_005272172.3:c.994C>T XP_005272229.1:p.Arg332Trp
XM_005272173.3:c.994C>T XP_005272230.1:p.Arg332Trp
XM_011518404.3:c.994C>T XP_011516706.1:p.Arg332Trp
XM_011518405.3:c.994C>T XP_011516707.1:p.Arg332Trp
XM_011518406.2:c.994C>T XP_011516708.1:p.Arg332Trp
XM_011518408.3:c.994C>T XP_011516710.1:p.Arg332Trp
XR_001746251.1:n.1178C>T
XR_929739.2:n.1178C>T
NM_015046.7:c.994C>T MANE Select NP_055861.3:p.Arg332Trp
NM_001351528.2:c.994C>T NP_001338457.1:p.Arg332Trp
NM_001351527.2:c.994C>T NP_001338456.1:p.Arg332Trp
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