Canonical Allele Identifier: CA5296281

Gene: SETX

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132264301T>C , CM000671.2:g.132264301T>C	GRCh38
NC_000009.11:g.135139688T>C , CM000671.1:g.135139688T>C	GRCh37
NC_000009.10:g.134129509T>C	NCBI36
NG_007946.1:g.95685A>G , LRG_268:g.95685A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015046.7:c.7972A>G MANE Select	NP_055861.3:p.Arg2658Gly
ENST00000224140.6:c.7972A>G MANE Select	ENSP00000224140.5:p.Arg2658Gly
NM_001351527.1:c.7972A>G	NP_001338456.1:p.Arg2658Gly
NM_001351527.2:c.7972A>G	NP_001338456.1:p.Arg2658Gly
NM_001351528.1:c.8059A>G	NP_001338457.1:p.Arg2687Gly
NM_001351528.2:c.8059A>G	NP_001338457.1:p.Arg2687Gly
NM_015046.5:c.7972A>G , LRG_268t1:c.7972A>G	NP_055861.3:p.Arg2658Gly
NM_015046.6:c.7972A>G	NP_055861.3:p.Arg2658Gly
ENST00000224140.5:c.7972A>G	ENSP00000224140.5:p.Arg2658Gly
ENST00000436441.5:c.2785A>G	ENSP00000409143.1:p.Arg929Gly
ENST00000477049.1:n.1122A>G
XM_005272171.1:c.8059A>G	XP_005272228.1:p.Arg2687Gly
XM_005272172.1:c.8059A>G	XP_005272229.1:p.Arg2687Gly
XM_005272172.3:c.8059A>G	XP_005272229.1:p.Arg2687Gly
XM_005272173.1:c.8059A>G	XP_005272230.1:p.Arg2687Gly
XM_005272173.3:c.8059A>G	XP_005272230.1:p.Arg2687Gly
XM_011518404.1:c.8059A>G	XP_011516706.1:p.Arg2687Gly
XM_011518404.3:c.8059A>G	XP_011516706.1:p.Arg2687Gly
XM_011518405.1:c.8059A>G	XP_011516707.1:p.Arg2687Gly
XM_011518405.3:c.8059A>G	XP_011516707.1:p.Arg2687Gly
XM_017014496.1:c.2512A>G	XP_016869985.1:p.Arg838Gly
XR_001746251.1:n.7527A>G
XR_929739.1:n.7888A>G
XR_929739.2:n.7888A>G