Canonical Allele Identifier: CA5296494

Gene: SETX

Linked Data

• ClinVar Variation Id: 448343
• ClinVar RCV Id: RCV000524648 ; RCV000518213 ; RCV003233692 ; RCV004541620 ; RCV001814998 ; RCV003233693
• dbSNP Id: rs145397619
• ExAC: 9:135147157 C / T
• gnomAD v2: 9-135147157-C-T
• gnomAD v3: 9-132271770-C-T
• gnomAD v4: 9-132271770-C-T
• MyVariant Identifiers: chr9:g.135147157C>T (hg19) ; chr9:g.132271770C>T (hg38)
• PubMed: PMID:19696032

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132271770C>T , CM000671.2:g.132271770C>T	GRCh38
NC_000009.11:g.135147157C>T , CM000671.1:g.135147157C>T	GRCh37
NC_000009.10:g.134136978C>T	NCBI36
NG_007946.1:g.88216G>A , LRG_268:g.88216G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.7139G>A MANE Select	ENSP00000224140.5:p.Arg2380Gln
ENST00000224140.5:c.7139G>A	ENSP00000224140.5:p.Arg2380Gln
ENST00000436441.5:c.1865G>A	ENSP00000409143.1:p.Arg622Gln
ENST00000477049.1:n.166G>A
NM_015046.5:c.7139G>A , LRG_268t1:c.7139G>A	NP_055861.3:p.Arg2380Gln
XM_005272171.1:c.7139G>A	XP_005272228.1:p.Arg2380Gln
XM_005272172.1:c.7139G>A	XP_005272229.1:p.Arg2380Gln
XM_005272173.1:c.7139G>A	XP_005272230.1:p.Arg2380Gln
XM_011518404.1:c.7139G>A	XP_011516706.1:p.Arg2380Gln
XM_011518405.1:c.7139G>A	XP_011516707.1:p.Arg2380Gln
XM_011518406.1:c.7139G>A	XP_011516708.1:p.Arg2380Gln
XR_929739.1:n.7055G>A
NM_001351527.1:c.7139G>A	NP_001338456.1:p.Arg2380Gln
NM_001351528.1:c.7139G>A	NP_001338457.1:p.Arg2380Gln
NM_015046.6:c.7139G>A	NP_055861.3:p.Arg2380Gln
XM_005272172.3:c.7139G>A	XP_005272229.1:p.Arg2380Gln
XM_005272173.3:c.7139G>A	XP_005272230.1:p.Arg2380Gln
XM_011518404.3:c.7139G>A	XP_011516706.1:p.Arg2380Gln
XM_011518405.3:c.7139G>A	XP_011516707.1:p.Arg2380Gln
XM_011518406.2:c.7139G>A	XP_011516708.1:p.Arg2380Gln
XM_017014496.1:c.1592G>A	XP_016869985.1:p.Arg531Gln
XR_001746251.1:n.6694G>A
XR_929739.2:n.7055G>A
NM_015046.7:c.7139G>A MANE Select	NP_055861.3:p.Arg2380Gln
NM_001351528.2:c.7139G>A	NP_001338457.1:p.Arg2380Gln
NM_001351527.2:c.7139G>A	NP_001338456.1:p.Arg2380Gln