Canonical Allele Identifier: CA5297106

Gene: SETX

Linked Data

• ClinVar Variation Id: 365352
• ClinVar RCV Id: RCV000323303 ; RCV000380301 ; RCV002524587
• dbSNP Id: rs375942182
• ExAC: 9:135202061 G / T
• gnomAD v2: 9-135202061-G-T
• gnomAD v4: 9-132326674-G-T
• MyVariant Identifiers: chr9:g.135202061G>T (hg19) ; chr9:g.132326674G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132326674G>T , CM000671.2:g.132326674G>T	GRCh38
NC_000009.11:g.135202061G>T , CM000671.1:g.135202061G>T	GRCh37
NC_000009.10:g.134191882G>T	NCBI36
NG_007946.1:g.33312C>A , LRG_268:g.33312C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.4924C>A MANE Select	ENSP00000224140.5:p.Pro1642Thr
ENST00000224140.5:c.4924C>A	ENSP00000224140.5:p.Pro1642Thr
NM_015046.5:c.4924C>A , LRG_268t1:c.4924C>A	NP_055861.3:p.Pro1642Thr
XM_005272171.1:c.4924C>A	XP_005272228.1:p.Pro1642Thr
XM_005272172.1:c.4924C>A	XP_005272229.1:p.Pro1642Thr
XM_005272173.1:c.4924C>A	XP_005272230.1:p.Pro1642Thr
XM_011518404.1:c.4924C>A	XP_011516706.1:p.Pro1642Thr
XM_011518405.1:c.4924C>A	XP_011516707.1:p.Pro1642Thr
XM_011518406.1:c.4924C>A	XP_011516708.1:p.Pro1642Thr
XM_011518407.1:c.4924C>A	XP_011516709.1:p.Pro1642Thr
XM_011518408.1:c.4924C>A	XP_011516710.1:p.Pro1642Thr
XR_929739.1:n.5108C>A
NM_001351527.1:c.4924C>A	NP_001338456.1:p.Pro1642Thr
NM_001351528.1:c.4924C>A	NP_001338457.1:p.Pro1642Thr
NM_015046.6:c.4924C>A	NP_055861.3:p.Pro1642Thr
XM_005272172.3:c.4924C>A	XP_005272229.1:p.Pro1642Thr
XM_005272173.3:c.4924C>A	XP_005272230.1:p.Pro1642Thr
XM_011518404.3:c.4924C>A	XP_011516706.1:p.Pro1642Thr
XM_011518405.3:c.4924C>A	XP_011516707.1:p.Pro1642Thr
XM_011518406.2:c.4924C>A	XP_011516708.1:p.Pro1642Thr
XM_011518408.3:c.4924C>A	XP_011516710.1:p.Pro1642Thr
XM_017014496.1:c.-274+279C>A	XP_016869985.1:n.-274+279C>A
XR_001746251.1:n.4829+279C>A
XR_929739.2:n.5108C>A
NM_015046.7:c.4924C>A MANE Select	NP_055861.3:p.Pro1642Thr
NM_001351528.2:c.4924C>A	NP_001338457.1:p.Pro1642Thr
NM_001351527.2:c.4924C>A	NP_001338456.1:p.Pro1642Thr