Canonical Allele Identifier: CA200807527
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 448326
dbSNP Id: rs146407699

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132327553G>C , CM000671.2:g.132327553G>C GRCh38
NC_000009.11:g.135202940G>C , CM000671.1:g.135202940G>C GRCh37
NC_000009.10:g.134192761G>C NCBI36
NG_007946.1:g.32433C>G , LRG_268:g.32433C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000224140.6:c.4045C>G MANE Select ENSP00000224140.5:p.Gln1349Glu
ENST00000224140.5:c.4045C>G ENSP00000224140.5:p.Gln1349Glu
NM_015046.5:c.4045C>G , LRG_268t1:c.4045C>G NP_055861.3:p.Gln1349Glu
XM_005272171.1:c.4045C>G XP_005272228.1:p.Gln1349Glu
XM_005272172.1:c.4045C>G XP_005272229.1:p.Gln1349Glu
XM_005272173.1:c.4045C>G XP_005272230.1:p.Gln1349Glu
XM_011518404.1:c.4045C>G XP_011516706.1:p.Gln1349Glu
XM_011518405.1:c.4045C>G XP_011516707.1:p.Gln1349Glu
XM_011518406.1:c.4045C>G XP_011516708.1:p.Gln1349Glu
XM_011518407.1:c.4045C>G XP_011516709.1:p.Gln1349Glu
XM_011518408.1:c.4045C>G XP_011516710.1:p.Gln1349Glu
XR_929739.1:n.4229C>G
NM_001351527.1:c.4045C>G NP_001338456.1:p.Gln1349Glu
NM_001351528.1:c.4045C>G NP_001338457.1:p.Gln1349Glu
NM_015046.6:c.4045C>G NP_055861.3:p.Gln1349Glu
XM_005272172.3:c.4045C>G XP_005272229.1:p.Gln1349Glu
XM_005272173.3:c.4045C>G XP_005272230.1:p.Gln1349Glu
XM_011518404.3:c.4045C>G XP_011516706.1:p.Gln1349Glu
XM_011518405.3:c.4045C>G XP_011516707.1:p.Gln1349Glu
XM_011518406.2:c.4045C>G XP_011516708.1:p.Gln1349Glu
XM_011518408.3:c.4045C>G XP_011516710.1:p.Gln1349Glu
XR_001746251.1:n.4229C>G
XR_929739.2:n.4229C>G
NM_015046.7:c.4045C>G MANE Select NP_055861.3:p.Gln1349Glu
NM_001351528.2:c.4045C>G NP_001338457.1:p.Gln1349Glu
NM_001351527.2:c.4045C>G NP_001338456.1:p.Gln1349Glu