Canonical Allele Identifier: CA200793094

Gene: SETX

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132263985G>A , CM000671.2:g.132263985G>A	GRCh38
NC_000009.11:g.135139372G>A , CM000671.1:g.135139372G>A	GRCh37
NC_000009.10:g.134129193G>A	NCBI36
NG_007946.1:g.96001C>T , LRG_268:g.96001C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015046.7:c.*254C>T MANE Select	NP_055861.3:n.*254C>T
ENST00000224140.6:c.*254C>T MANE Select	ENSP00000224140.5:n.*254C>T
NM_001351527.1:c.*254C>T	NP_001338456.1:n.*254C>T
NM_001351527.2:c.*254C>T	NP_001338456.1:n.*254C>T
NM_001351528.1:c.*254C>T	NP_001338457.1:n.*254C>T
NM_001351528.2:c.*254C>T	NP_001338457.1:n.*254C>T
NM_015046.5:c.*254C>T , LRG_268t1:c.*254C>T	NP_055861.3:n.*254C>T
NM_015046.6:c.*254C>T	NP_055861.3:n.*254C>T
ENST00000224140.5:c.*254C>T	ENSP00000224140.5:n.*254C>T
ENST00000436441.5:c.3101C>T	ENSP00000409143.1:n.3101C>T
ENST00000477049.1:n.1438C>T
XM_005272171.1:c.*254C>T	XP_005272228.1:n.*254C>T
XM_005272172.1:c.*254C>T	XP_005272229.1:n.*254C>T
XM_005272173.1:c.*254C>T	XP_005272230.1:n.*254C>T
XM_011518404.1:c.*254C>T	XP_011516706.1:n.*254C>T
XM_011518405.1:c.*254C>T	XP_011516707.1:n.*254C>T
XM_017014496.1:c.*254C>T	XP_016869985.1:n.*254C>T
XR_001746251.1:n.7843C>T
XR_929739.1:n.8204C>T
XR_929739.2:n.8204C>T