Canonical Allele Identifier: CA200843592

Gene: SETX

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132354925G>T , CM000671.2:g.132354925G>T	GRCh38
NC_000009.11:g.135230312G>T , CM000671.1:g.135230312G>T	GRCh37
NC_000009.10:g.134220133G>T	NCBI36
NG_007946.1:g.5061C>A , LRG_268:g.5061C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015046.7:c.-123C>A MANE Select	NP_055861.3:n.-123C>A
ENST00000224140.6:c.-123C>A MANE Select	ENSP00000224140.5:n.-123C>A
NM_001351528.1:c.-123C>A	NP_001338457.1:n.-123C>A
NM_001351528.2:c.-123C>A	NP_001338457.1:n.-123C>A
NM_015046.5:c.-123C>A , LRG_268t1:c.-123C>A	NP_055861.3:n.-123C>A
NM_015046.6:c.-123C>A	NP_055861.3:n.-123C>A
ENST00000224140.5:c.-123C>A	ENSP00000224140.5:n.-123C>A
XM_005272171.1:c.-123C>A	XP_005272228.1:n.-123C>A
XM_005272172.1:c.-115+394C>A	XP_005272229.1:n.-115+394C>A
XM_005272172.3:c.-115+394C>A	XP_005272229.1:n.-115+394C>A
XM_011518404.1:c.-115+394C>A	XP_011516706.1:n.-115+394C>A
XM_011518404.3:c.-115+394C>A	XP_011516706.1:n.-115+394C>A
XM_011518406.1:c.-123C>A	XP_011516708.1:n.-123C>A
XM_011518406.2:c.-123C>A	XP_011516708.1:n.-123C>A
XM_011518407.1:c.-123C>A	XP_011516709.1:n.-123C>A
XM_011518408.1:c.-123C>A	XP_011516710.1:n.-123C>A
XM_011518408.3:c.-123C>A	XP_011516710.1:n.-123C>A
XR_001746251.1:n.62C>A
XR_929739.1:n.62C>A
XR_929739.2:n.62C>A