Canonical Allele Identifier: CA375323581

Gene: SETX

Linked Data

• MyVariant Identifiers: chr9:g.135139960C>A (hg19) ; chr9:g.132264573C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132264573C>A , CM000671.2:g.132264573C>A	GRCh38
NC_000009.11:g.135139960C>A , CM000671.1:g.135139960C>A	GRCh37
NC_000009.10:g.134129781C>A	NCBI36
NG_007946.1:g.95413G>T , LRG_268:g.95413G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.7700G>T MANE Select	ENSP00000224140.5:p.Gly2567Val
ENST00000224140.5:c.7700G>T	ENSP00000224140.5:p.Gly2567Val
ENST00000436441.5:c.2513G>T	ENSP00000409143.1:p.Gly838Val
ENST00000477049.1:n.850G>T
NM_015046.5:c.7700G>T , LRG_268t1:c.7700G>T	NP_055861.3:p.Gly2567Val
XM_005272171.1:c.7787G>T	XP_005272228.1:p.Gly2596Val
XM_005272172.1:c.7787G>T	XP_005272229.1:p.Gly2596Val
XM_005272173.1:c.7787G>T	XP_005272230.1:p.Gly2596Val
XM_011518404.1:c.7787G>T	XP_011516706.1:p.Gly2596Val
XM_011518405.1:c.7787G>T	XP_011516707.1:p.Gly2596Val
XR_929739.1:n.7616G>T
NM_001351527.1:c.7700G>T	NP_001338456.1:p.Gly2567Val
NM_001351528.1:c.7787G>T	NP_001338457.1:p.Gly2596Val
NM_015046.6:c.7700G>T	NP_055861.3:p.Gly2567Val
XM_005272172.3:c.7787G>T	XP_005272229.1:p.Gly2596Val
XM_005272173.3:c.7787G>T	XP_005272230.1:p.Gly2596Val
XM_011518404.3:c.7787G>T	XP_011516706.1:p.Gly2596Val
XM_011518405.3:c.7787G>T	XP_011516707.1:p.Gly2596Val
XM_017014496.1:c.2240G>T	XP_016869985.1:p.Gly747Val
XR_001746251.1:n.7255G>T
XR_929739.2:n.7616G>T
NM_015046.7:c.7700G>T MANE Select	NP_055861.3:p.Gly2567Val
NM_001351528.2:c.7787G>T	NP_001338457.1:p.Gly2596Val
NM_001351527.2:c.7700G>T	NP_001338456.1:p.Gly2567Val