Canonical Allele Identifier: CA375323531

Gene: SETX

Linked Data

• MyVariant Identifiers: chr9:g.135139954G>C (hg19) ; chr9:g.132264567G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132264567G>C , CM000671.2:g.132264567G>C	GRCh38
NC_000009.11:g.135139954G>C , CM000671.1:g.135139954G>C	GRCh37
NC_000009.10:g.134129775G>C	NCBI36
NG_007946.1:g.95419C>G , LRG_268:g.95419C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000224140.6:c.7706C>G MANE Select	ENSP00000224140.5:p.Thr2569Arg
ENST00000224140.5:c.7706C>G	ENSP00000224140.5:p.Thr2569Arg
ENST00000436441.5:c.2519C>G	ENSP00000409143.1:p.Thr840Arg
ENST00000477049.1:n.856C>G
NM_015046.5:c.7706C>G , LRG_268t1:c.7706C>G	NP_055861.3:p.Thr2569Arg
XM_005272171.1:c.7793C>G	XP_005272228.1:p.Thr2598Arg
XM_005272172.1:c.7793C>G	XP_005272229.1:p.Thr2598Arg
XM_005272173.1:c.7793C>G	XP_005272230.1:p.Thr2598Arg
XM_011518404.1:c.7793C>G	XP_011516706.1:p.Thr2598Arg
XM_011518405.1:c.7793C>G	XP_011516707.1:p.Thr2598Arg
XR_929739.1:n.7622C>G
NM_001351527.1:c.7706C>G	NP_001338456.1:p.Thr2569Arg
NM_001351528.1:c.7793C>G	NP_001338457.1:p.Thr2598Arg
NM_015046.6:c.7706C>G	NP_055861.3:p.Thr2569Arg
XM_005272172.3:c.7793C>G	XP_005272229.1:p.Thr2598Arg
XM_005272173.3:c.7793C>G	XP_005272230.1:p.Thr2598Arg
XM_011518404.3:c.7793C>G	XP_011516706.1:p.Thr2598Arg
XM_011518405.3:c.7793C>G	XP_011516707.1:p.Thr2598Arg
XM_017014496.1:c.2246C>G	XP_016869985.1:p.Thr749Arg
XR_001746251.1:n.7261C>G
XR_929739.2:n.7622C>G
NM_015046.7:c.7706C>G MANE Select	NP_055861.3:p.Thr2569Arg
NM_001351528.2:c.7793C>G	NP_001338457.1:p.Thr2598Arg
NM_001351527.2:c.7706C>G	NP_001338456.1:p.Thr2569Arg