Canonical Allele Identifier: CA148727
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 95667
dbSNP Id: rs2296869

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132297025A>G , CM000671.2:g.132297025A>G GRCh38
NC_000009.11:g.135172412A>G , CM000671.1:g.135172412A>G GRCh37
NC_000009.10:g.134162233A>G NCBI36
NG_007946.1:g.62961T>C , LRG_268:g.62961T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000224140.6:c.5811T>C MANE Select ENSP00000224140.5:p.Asp1937=
ENST00000224140.5:c.5811T>C ENSP00000224140.5:p.Asp1937=
ENST00000436441.5:c.537T>C ENSP00000409143.1:p.Asp179=
NM_015046.5:c.5811T>C , LRG_268t1:c.5811T>C NP_055861.3:p.Asp1937=
XM_005272171.1:c.5811T>C XP_005272228.1:p.Asp1937=
XM_005272172.1:c.5811T>C XP_005272229.1:p.Asp1937=
XM_005272173.1:c.5811T>C XP_005272230.1:p.Asp1937=
XM_011518404.1:c.5811T>C XP_011516706.1:p.Asp1937=
XM_011518405.1:c.5811T>C XP_011516707.1:p.Asp1937=
XM_011518406.1:c.5811T>C XP_011516708.1:p.Asp1937=
XM_011518407.1:c.5811T>C XP_011516709.1:p.Asp1937=
XM_011518408.1:c.5811T>C XP_011516710.1:p.Asp1937=
XR_929739.1:n.5727T>C
NM_001351527.1:c.5811T>C NP_001338456.1:p.Asp1937=
NM_001351528.1:c.5811T>C NP_001338457.1:p.Asp1937=
NM_015046.6:c.5811T>C NP_055861.3:p.Asp1937=
XM_005272172.3:c.5811T>C XP_005272229.1:p.Asp1937=
XM_005272173.3:c.5811T>C XP_005272230.1:p.Asp1937=
XM_011518404.3:c.5811T>C XP_011516706.1:p.Asp1937=
XM_011518405.3:c.5811T>C XP_011516707.1:p.Asp1937=
XM_011518406.2:c.5811T>C XP_011516708.1:p.Asp1937=
XM_011518408.3:c.5811T>C XP_011516710.1:p.Asp1937=
XM_017014496.1:c.264T>C XP_016869985.1:p.Asp88=
XR_001746251.1:n.5366T>C
XR_929739.2:n.5727T>C
NM_015046.7:c.5811T>C MANE Select NP_055861.3:p.Asp1937=
NM_001351528.2:c.5811T>C NP_001338457.1:p.Asp1937=
NM_001351527.2:c.5811T>C NP_001338456.1:p.Asp1937=