Canonical Allele Identifier: CA200793208

Gene: SETX

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132264330G>A , CM000671.2:g.132264330G>A	GRCh38
NC_000009.11:g.135139717G>A , CM000671.1:g.135139717G>A	GRCh37
NC_000009.10:g.134129538G>A	NCBI36
NG_007946.1:g.95656C>T , LRG_268:g.95656C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.7943C>T MANE Select	ENSP00000224140.5:p.Ser2648Phe
ENST00000224140.5:c.7943C>T	ENSP00000224140.5:p.Ser2648Phe
ENST00000436441.5:c.2756C>T	ENSP00000409143.1:p.Ser919Phe
ENST00000477049.1:n.1093C>T
NM_015046.5:c.7943C>T , LRG_268t1:c.7943C>T	NP_055861.3:p.Ser2648Phe
XM_005272171.1:c.8030C>T	XP_005272228.1:p.Ser2677Phe
XM_005272172.1:c.8030C>T	XP_005272229.1:p.Ser2677Phe
XM_005272173.1:c.8030C>T	XP_005272230.1:p.Ser2677Phe
XM_011518404.1:c.8030C>T	XP_011516706.1:p.Ser2677Phe
XM_011518405.1:c.8030C>T	XP_011516707.1:p.Ser2677Phe
XR_929739.1:n.7859C>T
NM_001351527.1:c.7943C>T	NP_001338456.1:p.Ser2648Phe
NM_001351528.1:c.8030C>T	NP_001338457.1:p.Ser2677Phe
NM_015046.6:c.7943C>T	NP_055861.3:p.Ser2648Phe
XM_005272172.3:c.8030C>T	XP_005272229.1:p.Ser2677Phe
XM_005272173.3:c.8030C>T	XP_005272230.1:p.Ser2677Phe
XM_011518404.3:c.8030C>T	XP_011516706.1:p.Ser2677Phe
XM_011518405.3:c.8030C>T	XP_011516707.1:p.Ser2677Phe
XM_017014496.1:c.2483C>T	XP_016869985.1:p.Ser828Phe
XR_001746251.1:n.7498C>T
XR_929739.2:n.7859C>T
NM_015046.7:c.7943C>T MANE Select	NP_055861.3:p.Ser2648Phe
NM_001351528.2:c.8030C>T	NP_001338457.1:p.Ser2677Phe
NM_001351527.2:c.7943C>T	NP_001338456.1:p.Ser2648Phe