Canonical Allele Identifier: CA10626629
Gene: SETX HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.132263973T>C
GRCh37 chr9:g.135139360T>C
gnomAD v2:
9:135139360 T / C
gnomAD v3:
9:132263973 T / C
gnomAD v4:
chr9-132263973-T-C
Joint Max Group AF 0.0038106 (AFR)
Genomes Max Group AF 0.00379147 (AFR)
Exomes Max Group AF 0.00317358 (AFR)
ClinVar RCV:
RCV000298691
RCV000391273
ClinVar Variation:
365335
dbSNP:
575959163
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132263973T>C , CM000671.2:g.132263973T>C GRCh38
NC_000009.11:g.135139360T>C , CM000671.1:g.135139360T>C GRCh37
NC_000009.10:g.134129181T>C NCBI36
NG_007946.1:g.96013A>G , LRG_268:g.96013A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000224140.6:c.*266A>G MANE Select ENSP00000224140.5:n.*266A>G
ENST00000224140.5:c.*266A>G ENSP00000224140.5:n.*266A>G
ENST00000436441.5:c.3113A>G ENSP00000409143.1:n.3113A>G
ENST00000477049.1:n.1450A>G
NM_015046.5:c.*266A>G , LRG_268t1:c.*266A>G NP_055861.3:n.*266A>G
XM_005272171.1:c.*266A>G XP_005272228.1:n.*266A>G
XM_005272172.1:c.*266A>G XP_005272229.1:n.*266A>G
XM_005272173.1:c.*266A>G XP_005272230.1:n.*266A>G
XM_011518404.1:c.*266A>G XP_011516706.1:n.*266A>G
XM_011518405.1:c.*266A>G XP_011516707.1:n.*266A>G
XR_929739.1:n.8216A>G
NM_001351527.1:c.*266A>G NP_001338456.1:n.*266A>G
NM_001351528.1:c.*266A>G NP_001338457.1:n.*266A>G
NM_015046.6:c.*266A>G NP_055861.3:n.*266A>G
XM_017014496.1:c.*266A>G XP_016869985.1:n.*266A>G
XR_001746251.1:n.7855A>G
XR_929739.2:n.8216A>G
NM_015046.7:c.*266A>G MANE Select NP_055861.3:n.*266A>G
NM_001351528.2:c.*266A>G NP_001338457.1:n.*266A>G
NM_001351527.2:c.*266A>G NP_001338456.1:n.*266A>G
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