Canonical Allele Identifier: CA5297167

Gene: SETX

Linked Data

• ClinVar Variation Id: 365353
• ClinVar RCV Id: RCV000348389 ; RCV000400900 ; RCV000644810 ; RCV002338959 ; RCV003482252 ; RCV004544710
• dbSNP Id: rs147018359
• ExAC: 9:135202373 G / A
• gnomAD v2: 9-135202373-G-A
• gnomAD v3: 9-132326986-G-A
• gnomAD v4: 9-132326986-G-A
• COSMIC: COSM4725228 ; COSM4725229
• MyVariant Identifiers: chr9:g.135202373G>A (hg19) ; chr9:g.132326986G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132326986G>A , CM000671.2:g.132326986G>A	GRCh38
NC_000009.11:g.135202373G>A , CM000671.1:g.135202373G>A	GRCh37
NC_000009.10:g.134192194G>A	NCBI36
NG_007946.1:g.33000C>T , LRG_268:g.33000C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.4612C>T MANE Select	ENSP00000224140.5:p.Arg1538Trp
ENST00000224140.5:c.4612C>T	ENSP00000224140.5:p.Arg1538Trp
NM_015046.5:c.4612C>T , LRG_268t1:c.4612C>T	NP_055861.3:p.Arg1538Trp
XM_005272171.1:c.4612C>T	XP_005272228.1:p.Arg1538Trp
XM_005272172.1:c.4612C>T	XP_005272229.1:p.Arg1538Trp
XM_005272173.1:c.4612C>T	XP_005272230.1:p.Arg1538Trp
XM_011518404.1:c.4612C>T	XP_011516706.1:p.Arg1538Trp
XM_011518405.1:c.4612C>T	XP_011516707.1:p.Arg1538Trp
XM_011518406.1:c.4612C>T	XP_011516708.1:p.Arg1538Trp
XM_011518407.1:c.4612C>T	XP_011516709.1:p.Arg1538Trp
XM_011518408.1:c.4612C>T	XP_011516710.1:p.Arg1538Trp
XR_929739.1:n.4796C>T
NM_001351527.1:c.4612C>T	NP_001338456.1:p.Arg1538Trp
NM_001351528.1:c.4612C>T	NP_001338457.1:p.Arg1538Trp
NM_015046.6:c.4612C>T	NP_055861.3:p.Arg1538Trp
XM_005272172.3:c.4612C>T	XP_005272229.1:p.Arg1538Trp
XM_005272173.3:c.4612C>T	XP_005272230.1:p.Arg1538Trp
XM_011518404.3:c.4612C>T	XP_011516706.1:p.Arg1538Trp
XM_011518405.3:c.4612C>T	XP_011516707.1:p.Arg1538Trp
XM_011518406.2:c.4612C>T	XP_011516708.1:p.Arg1538Trp
XM_011518408.3:c.4612C>T	XP_011516710.1:p.Arg1538Trp
XM_017014496.1:c.-307C>T	XP_016869985.1:n.-307C>T
XR_001746251.1:n.4796C>T
XR_929739.2:n.4796C>T
NM_015046.7:c.4612C>T MANE Select	NP_055861.3:p.Arg1538Trp
NM_001351528.2:c.4612C>T	NP_001338457.1:p.Arg1538Trp
NM_001351527.2:c.4612C>T	NP_001338456.1:p.Arg1538Trp