Canonical Allele Identifier: CA5296348

Gene: SETX

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132264553C>T , CM000671.2:g.132264553C>T	GRCh38
NC_000009.11:g.135139940C>T , CM000671.1:g.135139940C>T	GRCh37
NC_000009.10:g.134129761C>T	NCBI36
NG_007946.1:g.95433G>A , LRG_268:g.95433G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015046.7:c.7720G>A MANE Select	NP_055861.3:p.Glu2574Lys
ENST00000224140.6:c.7720G>A MANE Select	ENSP00000224140.5:p.Glu2574Lys
NM_001351527.1:c.7720G>A	NP_001338456.1:p.Glu2574Lys
NM_001351527.2:c.7720G>A	NP_001338456.1:p.Glu2574Lys
NM_001351528.1:c.7807G>A	NP_001338457.1:p.Glu2603Lys
NM_001351528.2:c.7807G>A	NP_001338457.1:p.Glu2603Lys
NM_015046.5:c.7720G>A , LRG_268t1:c.7720G>A	NP_055861.3:p.Glu2574Lys
NM_015046.6:c.7720G>A	NP_055861.3:p.Glu2574Lys
ENST00000224140.5:c.7720G>A	ENSP00000224140.5:p.Glu2574Lys
ENST00000436441.5:c.2533G>A	ENSP00000409143.1:p.Glu845Lys
ENST00000477049.1:n.870G>A
XM_005272171.1:c.7807G>A	XP_005272228.1:p.Glu2603Lys
XM_005272172.1:c.7807G>A	XP_005272229.1:p.Glu2603Lys
XM_005272172.3:c.7807G>A	XP_005272229.1:p.Glu2603Lys
XM_005272173.1:c.7807G>A	XP_005272230.1:p.Glu2603Lys
XM_005272173.3:c.7807G>A	XP_005272230.1:p.Glu2603Lys
XM_011518404.1:c.7807G>A	XP_011516706.1:p.Glu2603Lys
XM_011518404.3:c.7807G>A	XP_011516706.1:p.Glu2603Lys
XM_011518405.1:c.7807G>A	XP_011516707.1:p.Glu2603Lys
XM_011518405.3:c.7807G>A	XP_011516707.1:p.Glu2603Lys
XM_017014496.1:c.2260G>A	XP_016869985.1:p.Glu754Lys
XR_001746251.1:n.7275G>A
XR_929739.1:n.7636G>A
XR_929739.2:n.7636G>A