Canonical Allele Identifier: CA5296845

Gene: SETX

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132295920T>C , CM000671.2:g.132295920T>C	GRCh38
NC_000009.11:g.135171307T>C , CM000671.1:g.135171307T>C	GRCh37
NC_000009.10:g.134161128T>C	NCBI36
NG_007946.1:g.64066A>G , LRG_268:g.64066A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015046.7:c.6058A>G MANE Select	NP_055861.3:p.Ile2020Val
ENST00000224140.6:c.6058A>G MANE Select	ENSP00000224140.5:p.Ile2020Val
NM_001351527.1:c.6058A>G	NP_001338456.1:p.Ile2020Val
NM_001351527.2:c.6058A>G	NP_001338456.1:p.Ile2020Val
NM_001351528.1:c.6058A>G	NP_001338457.1:p.Ile2020Val
NM_001351528.2:c.6058A>G	NP_001338457.1:p.Ile2020Val
NM_015046.5:c.6058A>G , LRG_268t1:c.6058A>G	NP_055861.3:p.Ile2020Val
NM_015046.6:c.6058A>G	NP_055861.3:p.Ile2020Val
ENST00000224140.5:c.6058A>G	ENSP00000224140.5:p.Ile2020Val
ENST00000436441.5:c.784A>G	ENSP00000409143.1:p.Ile262Val
XM_005272171.1:c.6058A>G	XP_005272228.1:p.Ile2020Val
XM_005272172.1:c.6058A>G	XP_005272229.1:p.Ile2020Val
XM_005272172.3:c.6058A>G	XP_005272229.1:p.Ile2020Val
XM_005272173.1:c.6058A>G	XP_005272230.1:p.Ile2020Val
XM_005272173.3:c.6058A>G	XP_005272230.1:p.Ile2020Val
XM_011518404.1:c.6058A>G	XP_011516706.1:p.Ile2020Val
XM_011518404.3:c.6058A>G	XP_011516706.1:p.Ile2020Val
XM_011518405.1:c.6058A>G	XP_011516707.1:p.Ile2020Val
XM_011518405.3:c.6058A>G	XP_011516707.1:p.Ile2020Val
XM_011518406.1:c.6058A>G	XP_011516708.1:p.Ile2020Val
XM_011518406.2:c.6058A>G	XP_011516708.1:p.Ile2020Val
XM_011518407.1:c.6058A>G	XP_011516709.1:p.Ile2020Val
XM_011518408.1:c.6058A>G	XP_011516710.1:p.Ile2020Val
XM_011518408.3:c.6058A>G	XP_011516710.1:p.Ile2020Val
XM_017014496.1:c.511A>G	XP_016869985.1:p.Ile171Val
XR_001746251.1:n.5613A>G
XR_929739.1:n.5974A>G
XR_929739.2:n.5974A>G