Canonical Allele Identifier: CA5296501
Gene: SETX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132271808T>C , CM000671.2:g.132271808T>C GRCh38
NC_000009.11:g.135147195T>C , CM000671.1:g.135147195T>C GRCh37
NC_000009.10:g.134137016T>C NCBI36
NG_007946.1:g.88178A>G , LRG_268:g.88178A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000224140.6:c.7101A>G MANE Select ENSP00000224140.5:p.Gly2367=
ENST00000224140.5:c.7101A>G ENSP00000224140.5:p.Gly2367=
ENST00000436441.5:c.1827A>G ENSP00000409143.1:p.Gly609=
ENST00000477049.1:n.128A>G
NM_015046.5:c.7101A>G , LRG_268t1:c.7101A>G NP_055861.3:p.Gly2367=
XM_005272171.1:c.7101A>G XP_005272228.1:p.Gly2367=
XM_005272172.1:c.7101A>G XP_005272229.1:p.Gly2367=
XM_005272173.1:c.7101A>G XP_005272230.1:p.Gly2367=
XM_011518404.1:c.7101A>G XP_011516706.1:p.Gly2367=
XM_011518405.1:c.7101A>G XP_011516707.1:p.Gly2367=
XM_011518406.1:c.7101A>G XP_011516708.1:p.Gly2367=
XR_929739.1:n.7017A>G
NM_001351527.1:c.7101A>G NP_001338456.1:p.Gly2367=
NM_001351528.1:c.7101A>G NP_001338457.1:p.Gly2367=
NM_015046.6:c.7101A>G NP_055861.3:p.Gly2367=
XM_005272172.3:c.7101A>G XP_005272229.1:p.Gly2367=
XM_005272173.3:c.7101A>G XP_005272230.1:p.Gly2367=
XM_011518404.3:c.7101A>G XP_011516706.1:p.Gly2367=
XM_011518405.3:c.7101A>G XP_011516707.1:p.Gly2367=
XM_011518406.2:c.7101A>G XP_011516708.1:p.Gly2367=
XM_017014496.1:c.1554A>G XP_016869985.1:p.Gly518=
XR_001746251.1:n.6656A>G
XR_929739.2:n.7017A>G
NM_015046.7:c.7101A>G MANE Select NP_055861.3:p.Gly2367=
NM_001351528.2:c.7101A>G NP_001338457.1:p.Gly2367=
NM_001351527.2:c.7101A>G NP_001338456.1:p.Gly2367=