Canonical Allele Identifier: CA1882141914
Community Standard Title: NM_015046.7(SETX):c.7759A= (p.Ile2587=)
Gene: SETX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132264514T= , CM000671.2:g.132264514T= GRCh38
NC_000009.11:g.135139901T= , CM000671.1:g.135139901T= GRCh37
NC_000009.10:g.134129722T= NCBI36
NG_007946.1:g.95472A= , LRG_268:g.95472A=

Transcript Alleles

HGVS Amino-acid Change
NM_015046.7:c.7759A= MANE Select NP_055861.3:p.Ile2587=
ENST00000224140.6:c.7759A= MANE Select ENSP00000224140.5:p.Ile2587=
NM_001351527.1:c.7759A= NP_001338456.1:p.Ile2587=
NM_001351527.2:c.7759A= NP_001338456.1:p.Ile2587=
NM_001351528.1:c.7846A= NP_001338457.1:p.Ile2616=
NM_001351528.2:c.7846A= NP_001338457.1:p.Ile2616=
NM_015046.5:c.7759A= , LRG_268t1:c.7759A= NP_055861.3:p.Ile2587=
NM_015046.6:c.7759A= NP_055861.3:p.Ile2587=
ENST00000224140.5:c.7759A= ENSP00000224140.5:p.Ile2587=
ENST00000436441.5:c.2572A= ENSP00000409143.1:p.Ile858=
ENST00000477049.1:n.909A=
XM_005272171.1:c.7846A= XP_005272228.1:p.Ile2616=
XM_005272172.1:c.7846A= XP_005272229.1:p.Ile2616=
XM_005272172.3:c.7846A= XP_005272229.1:p.Ile2616=
XM_005272173.1:c.7846A= XP_005272230.1:p.Ile2616=
XM_005272173.3:c.7846A= XP_005272230.1:p.Ile2616=
XM_011518404.1:c.7846A= XP_011516706.1:p.Ile2616=
XM_011518404.3:c.7846A= XP_011516706.1:p.Ile2616=
XM_011518405.1:c.7846A= XP_011516707.1:p.Ile2616=
XM_011518405.3:c.7846A= XP_011516707.1:p.Ile2616=
XM_017014496.1:c.2299A= XP_016869985.1:p.Ile767=
XR_001746251.1:n.7314A=
XR_929739.1:n.7675A=
XR_929739.2:n.7675A=