Canonical Allele Identifier: CA375330735

Gene: SETX

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132278069C>A , CM000671.2:g.132278069C>A	GRCh38
NC_000009.11:g.135153456C>A , CM000671.1:g.135153456C>A	GRCh37
NC_000009.10:g.134143277C>A	NCBI36
NG_007946.1:g.81917G>T , LRG_268:g.81917G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015046.7:c.6842+1G>T MANE Select	NP_055861.3:n.6842+1G>T
ENST00000224140.6:c.6842+1G>T MANE Select	ENSP00000224140.5:n.6842+1G>T
NM_001351527.1:c.6842+1G>T	NP_001338456.1:n.6842+1G>T
NM_001351527.2:c.6842+1G>T	NP_001338456.1:n.6842+1G>T
NM_001351528.1:c.6842+1G>T	NP_001338457.1:n.6842+1G>T
NM_001351528.2:c.6842+1G>T	NP_001338457.1:n.6842+1G>T
NM_015046.5:c.6842+1G>T , LRG_268t1:c.6842+1G>T	NP_055861.3:n.6842+1G>T
NM_015046.6:c.6842+1G>T	NP_055861.3:n.6842+1G>T
ENST00000224140.5:c.6842+1G>T	ENSP00000224140.5:n.6842+1G>T
ENST00000436441.5:c.1568+1G>T	ENSP00000409143.1:n.1568+1G>T
ENST00000464133.1:n.40+1G>T
XM_005272171.1:c.6842+1G>T	XP_005272228.1:n.6842+1G>T
XM_005272172.1:c.6842+1G>T	XP_005272229.1:n.6842+1G>T
XM_005272172.3:c.6842+1G>T	XP_005272229.1:n.6842+1G>T
XM_005272173.1:c.6842+1G>T	XP_005272230.1:n.6842+1G>T
XM_005272173.3:c.6842+1G>T	XP_005272230.1:n.6842+1G>T
XM_011518404.1:c.6842+1G>T	XP_011516706.1:n.6842+1G>T
XM_011518404.3:c.6842+1G>T	XP_011516706.1:n.6842+1G>T
XM_011518405.1:c.6842+1G>T	XP_011516707.1:n.6842+1G>T
XM_011518405.3:c.6842+1G>T	XP_011516707.1:n.6842+1G>T
XM_011518406.1:c.6842+1G>T	XP_011516708.1:n.6842+1G>T
XM_011518406.2:c.6842+1G>T	XP_011516708.1:n.6842+1G>T
XM_011518407.1:c.6842+1G>T	XP_011516709.1:n.6842+1G>T
XM_017014496.1:c.1295+1G>T	XP_016869985.1:n.1295+1G>T
XR_001746251.1:n.6397+1G>T
XR_929739.1:n.6758+1G>T
XR_929739.2:n.6758+1G>T