Canonical Allele Identifier: CA2786130892
Gene: SETX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132330533T>C , CM000671.2:g.132330533T>C GRCh38
NC_000009.11:g.135205920T>C , CM000671.1:g.135205920T>C GRCh37
NC_000009.10:g.134195741T>C NCBI36
NG_007946.1:g.29453A>G , LRG_268:g.29453A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000224140.6:c.1099-34A>G MANE Select ENSP00000224140.5:n.1099-34A>G
ENST00000224140.5:c.1099-34A>G ENSP00000224140.5:n.1099-34A>G
NM_015046.5:c.1099-34A>G , LRG_268t1:c.1099-34A>G NP_055861.3:n.1099-34A>G
XM_005272171.1:c.1099-34A>G XP_005272228.1:n.1099-34A>G
XM_005272172.1:c.1099-34A>G XP_005272229.1:n.1099-34A>G
XM_005272173.1:c.1099-34A>G XP_005272230.1:n.1099-34A>G
XM_011518404.1:c.1099-34A>G XP_011516706.1:n.1099-34A>G
XM_011518405.1:c.1099-34A>G XP_011516707.1:n.1099-34A>G
XM_011518406.1:c.1099-34A>G XP_011516708.1:n.1099-34A>G
XM_011518407.1:c.1099-34A>G XP_011516709.1:n.1099-34A>G
XM_011518408.1:c.1099-34A>G XP_011516710.1:n.1099-34A>G
XR_929739.1:n.1283-34A>G
NM_001351527.1:c.1099-34A>G NP_001338456.1:n.1099-34A>G
NM_001351528.1:c.1099-34A>G NP_001338457.1:n.1099-34A>G
NM_015046.6:c.1099-34A>G NP_055861.3:n.1099-34A>G
XM_005272172.3:c.1099-34A>G XP_005272229.1:n.1099-34A>G
XM_005272173.3:c.1099-34A>G XP_005272230.1:n.1099-34A>G
XM_011518404.3:c.1099-34A>G XP_011516706.1:n.1099-34A>G
XM_011518405.3:c.1099-34A>G XP_011516707.1:n.1099-34A>G
XM_011518406.2:c.1099-34A>G XP_011516708.1:n.1099-34A>G
XM_011518408.3:c.1099-34A>G XP_011516710.1:n.1099-34A>G
XR_001746251.1:n.1283-34A>G
XR_929739.2:n.1283-34A>G
NM_015046.7:c.1099-34A>G MANE Select NP_055861.3:n.1099-34A>G
NM_001351528.2:c.1099-34A>G NP_001338457.1:n.1099-34A>G
NM_001351527.2:c.1099-34A>G NP_001338456.1:n.1099-34A>G