Canonical Allele Identifier: CA1882092059
Gene: SETX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132296911G= , CM000671.2:g.132296911G= GRCh38
NC_000009.11:g.135172298G= , CM000671.1:g.135172298G= GRCh37
NC_000009.10:g.134162119G= NCBI36
NG_007946.1:g.63075C= , LRG_268:g.63075C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000224140.6:c.5925C= MANE Select ENSP00000224140.5:p.Gly1975=
ENST00000224140.5:c.5925C= ENSP00000224140.5:p.Gly1975=
ENST00000436441.5:c.651C= ENSP00000409143.1:p.Gly217=
NM_015046.5:c.5925C= , LRG_268t1:c.5925C= NP_055861.3:p.Gly1975=
XM_005272171.1:c.5925C= XP_005272228.1:p.Gly1975=
XM_005272172.1:c.5925C= XP_005272229.1:p.Gly1975=
XM_005272173.1:c.5925C= XP_005272230.1:p.Gly1975=
XM_011518404.1:c.5925C= XP_011516706.1:p.Gly1975=
XM_011518405.1:c.5925C= XP_011516707.1:p.Gly1975=
XM_011518406.1:c.5925C= XP_011516708.1:p.Gly1975=
XM_011518407.1:c.5925C= XP_011516709.1:p.Gly1975=
XM_011518408.1:c.5925C= XP_011516710.1:p.Gly1975=
XR_929739.1:n.5841C=
NM_001351527.1:c.5925C= NP_001338456.1:p.Gly1975=
NM_001351528.1:c.5925C= NP_001338457.1:p.Gly1975=
NM_015046.6:c.5925C= NP_055861.3:p.Gly1975=
XM_005272172.3:c.5925C= XP_005272229.1:p.Gly1975=
XM_005272173.3:c.5925C= XP_005272230.1:p.Gly1975=
XM_011518404.3:c.5925C= XP_011516706.1:p.Gly1975=
XM_011518405.3:c.5925C= XP_011516707.1:p.Gly1975=
XM_011518406.2:c.5925C= XP_011516708.1:p.Gly1975=
XM_011518408.3:c.5925C= XP_011516710.1:p.Gly1975=
XM_017014496.1:c.378C= XP_016869985.1:p.Gly126=
XR_001746251.1:n.5480C=
XR_929739.2:n.5841C=
NM_015046.7:c.5925C= MANE Select NP_055861.3:p.Gly1975=
NM_001351528.2:c.5925C= NP_001338457.1:p.Gly1975=
NM_001351527.2:c.5925C= NP_001338456.1:p.Gly1975=