Canonical Allele Identifier: CA375325255

Gene: SETX

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132264785G>C , CM000671.2:g.132264785G>C	GRCh38
NC_000009.11:g.135140172G>C , CM000671.1:g.135140172G>C	GRCh37
NC_000009.10:g.134129993G>C	NCBI36
NG_007946.1:g.95201C>G , LRG_268:g.95201C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015046.7:c.7488C>G MANE Select	NP_055861.3:p.Asp2496Glu
ENST00000224140.6:c.7488C>G MANE Select	ENSP00000224140.5:p.Asp2496Glu
NM_001351527.1:c.7488C>G	NP_001338456.1:p.Asp2496Glu
NM_001351527.2:c.7488C>G	NP_001338456.1:p.Asp2496Glu
NM_001351528.1:c.7575C>G	NP_001338457.1:p.Asp2525Glu
NM_001351528.2:c.7575C>G	NP_001338457.1:p.Asp2525Glu
NM_015046.5:c.7488C>G , LRG_268t1:c.7488C>G	NP_055861.3:p.Asp2496Glu
NM_015046.6:c.7488C>G	NP_055861.3:p.Asp2496Glu
ENST00000224140.5:c.7488C>G	ENSP00000224140.5:p.Asp2496Glu
ENST00000436441.5:c.2301C>G	ENSP00000409143.1:p.Asp767Glu
ENST00000477049.1:n.638C>G
XM_005272171.1:c.7575C>G	XP_005272228.1:p.Asp2525Glu
XM_005272172.1:c.7575C>G	XP_005272229.1:p.Asp2525Glu
XM_005272172.3:c.7575C>G	XP_005272229.1:p.Asp2525Glu
XM_005272173.1:c.7575C>G	XP_005272230.1:p.Asp2525Glu
XM_005272173.3:c.7575C>G	XP_005272230.1:p.Asp2525Glu
XM_011518404.1:c.7575C>G	XP_011516706.1:p.Asp2525Glu
XM_011518404.3:c.7575C>G	XP_011516706.1:p.Asp2525Glu
XM_011518405.1:c.7575C>G	XP_011516707.1:p.Asp2525Glu
XM_011518405.3:c.7575C>G	XP_011516707.1:p.Asp2525Glu
XM_017014496.1:c.2028C>G	XP_016869985.1:p.Asp676Glu
XR_001746251.1:n.7043C>G
XR_929739.1:n.7404C>G
XR_929739.2:n.7404C>G