Canonical Allele Identifier: CA375327191

Gene: SETX

Linked Data

• gnomAD v4: 9-132327452-C-A
• COSMIC: COSM1106232 ; COSM4873055
• MyVariant Identifiers: chr9:g.135202839C>A (hg19) ; chr9:g.132327452C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132327452C>A , CM000671.2:g.132327452C>A	GRCh38
NC_000009.11:g.135202839C>A , CM000671.1:g.135202839C>A	GRCh37
NC_000009.10:g.134192660C>A	NCBI36
NG_007946.1:g.32534G>T , LRG_268:g.32534G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.4146G>T MANE Select	ENSP00000224140.5:p.Gln1382His
ENST00000224140.5:c.4146G>T	ENSP00000224140.5:p.Gln1382His
NM_015046.5:c.4146G>T , LRG_268t1:c.4146G>T	NP_055861.3:p.Gln1382His
XM_005272171.1:c.4146G>T	XP_005272228.1:p.Gln1382His
XM_005272172.1:c.4146G>T	XP_005272229.1:p.Gln1382His
XM_005272173.1:c.4146G>T	XP_005272230.1:p.Gln1382His
XM_011518404.1:c.4146G>T	XP_011516706.1:p.Gln1382His
XM_011518405.1:c.4146G>T	XP_011516707.1:p.Gln1382His
XM_011518406.1:c.4146G>T	XP_011516708.1:p.Gln1382His
XM_011518407.1:c.4146G>T	XP_011516709.1:p.Gln1382His
XM_011518408.1:c.4146G>T	XP_011516710.1:p.Gln1382His
XR_929739.1:n.4330G>T
NM_001351527.1:c.4146G>T	NP_001338456.1:p.Gln1382His
NM_001351528.1:c.4146G>T	NP_001338457.1:p.Gln1382His
NM_015046.6:c.4146G>T	NP_055861.3:p.Gln1382His
XM_005272172.3:c.4146G>T	XP_005272229.1:p.Gln1382His
XM_005272173.3:c.4146G>T	XP_005272230.1:p.Gln1382His
XM_011518404.3:c.4146G>T	XP_011516706.1:p.Gln1382His
XM_011518405.3:c.4146G>T	XP_011516707.1:p.Gln1382His
XM_011518406.2:c.4146G>T	XP_011516708.1:p.Gln1382His
XM_011518408.3:c.4146G>T	XP_011516710.1:p.Gln1382His
XR_001746251.1:n.4330G>T
XR_929739.2:n.4330G>T
NM_015046.7:c.4146G>T MANE Select	NP_055861.3:p.Gln1382His
NM_001351528.2:c.4146G>T	NP_001338457.1:p.Gln1382His
NM_001351527.2:c.4146G>T	NP_001338456.1:p.Gln1382His