Canonical Allele Identifier: CA5296344

Gene: SETX

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132264538C>A , CM000671.2:g.132264538C>A	GRCh38
NC_000009.11:g.135139925C>A , CM000671.1:g.135139925C>A	GRCh37
NC_000009.10:g.134129746C>A	NCBI36
NG_007946.1:g.95448G>T , LRG_268:g.95448G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015046.7:c.7735G>T MANE Select	NP_055861.3:p.Val2579Phe
ENST00000224140.6:c.7735G>T MANE Select	ENSP00000224140.5:p.Val2579Phe
NM_001351527.1:c.7735G>T	NP_001338456.1:p.Val2579Phe
NM_001351527.2:c.7735G>T	NP_001338456.1:p.Val2579Phe
NM_001351528.1:c.7822G>T	NP_001338457.1:p.Val2608Phe
NM_001351528.2:c.7822G>T	NP_001338457.1:p.Val2608Phe
NM_015046.5:c.7735G>T , LRG_268t1:c.7735G>T	NP_055861.3:p.Val2579Phe
NM_015046.6:c.7735G>T	NP_055861.3:p.Val2579Phe
ENST00000224140.5:c.7735G>T	ENSP00000224140.5:p.Val2579Phe
ENST00000436441.5:c.2548G>T	ENSP00000409143.1:p.Val850Phe
ENST00000477049.1:n.885G>T
XM_005272171.1:c.7822G>T	XP_005272228.1:p.Val2608Phe
XM_005272172.1:c.7822G>T	XP_005272229.1:p.Val2608Phe
XM_005272172.3:c.7822G>T	XP_005272229.1:p.Val2608Phe
XM_005272173.1:c.7822G>T	XP_005272230.1:p.Val2608Phe
XM_005272173.3:c.7822G>T	XP_005272230.1:p.Val2608Phe
XM_011518404.1:c.7822G>T	XP_011516706.1:p.Val2608Phe
XM_011518404.3:c.7822G>T	XP_011516706.1:p.Val2608Phe
XM_011518405.1:c.7822G>T	XP_011516707.1:p.Val2608Phe
XM_011518405.3:c.7822G>T	XP_011516707.1:p.Val2608Phe
XM_017014496.1:c.2275G>T	XP_016869985.1:p.Val759Phe
XR_001746251.1:n.7290G>T
XR_929739.1:n.7651G>T
XR_929739.2:n.7651G>T