Canonical Allele Identifier: CA1882141946
Gene: SETX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132264566T= , CM000671.2:g.132264566T= GRCh38
NC_000009.11:g.135139953T= , CM000671.1:g.135139953T= GRCh37
NC_000009.10:g.134129774T= NCBI36
NG_007946.1:g.95420A= , LRG_268:g.95420A=

Transcript Alleles

HGVS Amino-acid change
ENST00000224140.6:c.7707A= MANE Select ENSP00000224140.5:p.Thr2569=
ENST00000224140.5:c.7707A= ENSP00000224140.5:p.Thr2569=
ENST00000436441.5:c.2520A= ENSP00000409143.1:p.Thr840=
ENST00000477049.1:n.857A=
NM_015046.5:c.7707A= , LRG_268t1:c.7707A= NP_055861.3:p.Thr2569=
XM_005272171.1:c.7794A= XP_005272228.1:p.Thr2598=
XM_005272172.1:c.7794A= XP_005272229.1:p.Thr2598=
XM_005272173.1:c.7794A= XP_005272230.1:p.Thr2598=
XM_011518404.1:c.7794A= XP_011516706.1:p.Thr2598=
XM_011518405.1:c.7794A= XP_011516707.1:p.Thr2598=
XR_929739.1:n.7623A=
NM_001351527.1:c.7707A= NP_001338456.1:p.Thr2569=
NM_001351528.1:c.7794A= NP_001338457.1:p.Thr2598=
NM_015046.6:c.7707A= NP_055861.3:p.Thr2569=
XM_005272172.3:c.7794A= XP_005272229.1:p.Thr2598=
XM_005272173.3:c.7794A= XP_005272230.1:p.Thr2598=
XM_011518404.3:c.7794A= XP_011516706.1:p.Thr2598=
XM_011518405.3:c.7794A= XP_011516707.1:p.Thr2598=
XM_017014496.1:c.2247A= XP_016869985.1:p.Thr749=
XR_001746251.1:n.7262A=
XR_929739.2:n.7623A=
NM_015046.7:c.7707A= MANE Select NP_055861.3:p.Thr2569=
NM_001351528.2:c.7794A= NP_001338457.1:p.Thr2598=
NM_001351527.2:c.7707A= NP_001338456.1:p.Thr2569=