Canonical Allele Identifier: CA5296303

Gene: SETX

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132264422C>T , CM000671.2:g.132264422C>T	GRCh38
NC_000009.11:g.135139809C>T , CM000671.1:g.135139809C>T	GRCh37
NC_000009.10:g.134129630C>T	NCBI36
NG_007946.1:g.95564G>A , LRG_268:g.95564G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015046.7:c.7851G>A MANE Select	NP_055861.3:p.Thr2617=
ENST00000224140.6:c.7851G>A MANE Select	ENSP00000224140.5:p.Thr2617=
NM_001351527.1:c.7851G>A	NP_001338456.1:p.Thr2617=
NM_001351527.2:c.7851G>A	NP_001338456.1:p.Thr2617=
NM_001351528.1:c.7938G>A	NP_001338457.1:p.Thr2646=
NM_001351528.2:c.7938G>A	NP_001338457.1:p.Thr2646=
NM_015046.5:c.7851G>A , LRG_268t1:c.7851G>A	NP_055861.3:p.Thr2617=
NM_015046.6:c.7851G>A	NP_055861.3:p.Thr2617=
ENST00000224140.5:c.7851G>A	ENSP00000224140.5:p.Thr2617=
ENST00000436441.5:c.2664G>A	ENSP00000409143.1:p.Thr888=
ENST00000477049.1:n.1001G>A
XM_005272171.1:c.7938G>A	XP_005272228.1:p.Thr2646=
XM_005272172.1:c.7938G>A	XP_005272229.1:p.Thr2646=
XM_005272172.3:c.7938G>A	XP_005272229.1:p.Thr2646=
XM_005272173.1:c.7938G>A	XP_005272230.1:p.Thr2646=
XM_005272173.3:c.7938G>A	XP_005272230.1:p.Thr2646=
XM_011518404.1:c.7938G>A	XP_011516706.1:p.Thr2646=
XM_011518404.3:c.7938G>A	XP_011516706.1:p.Thr2646=
XM_011518405.1:c.7938G>A	XP_011516707.1:p.Thr2646=
XM_011518405.3:c.7938G>A	XP_011516707.1:p.Thr2646=
XM_017014496.1:c.2391G>A	XP_016869985.1:p.Thr797=
XR_001746251.1:n.7406G>A
XR_929739.1:n.7767G>A
XR_929739.2:n.7767G>A