Canonical Allele Identifier: CA10632573

Gene: SETX

Linked Data

• ClinVar Variation Id: 365317
• ClinVar RCV Id: RCV000328543 ; RCV000364540
• dbSNP Id: rs7025
• gnomAD v2: 9-135138258-C-T
• gnomAD v3: 9-132262871-C-T
• gnomAD v4: 9-132262871-C-T
• MyVariant Identifiers: chr9:g.135138258C>T (hg19) ; chr9:g.132262871C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132262871C>T , CM000671.2:g.132262871C>T	GRCh38
NC_000009.11:g.135138258C>T , CM000671.1:g.135138258C>T	GRCh37
NC_000009.10:g.134128079C>T	NCBI36
NG_007946.1:g.97115G>A , LRG_268:g.97115G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.*1368G>A MANE Select	ENSP00000224140.5:n.*1368G>A
ENST00000224140.5:c.*1368G>A	ENSP00000224140.5:n.*1368G>A
ENST00000436441.5:c.4215G>A	ENSP00000409143.1:n.4215G>A
ENST00000477049.1:n.2552G>A
NM_015046.5:c.*1368G>A , LRG_268t1:c.*1368G>A	NP_055861.3:n.*1368G>A
XM_005272171.1:c.*1368G>A	XP_005272228.1:n.*1368G>A
XM_005272172.1:c.*1368G>A	XP_005272229.1:n.*1368G>A
XM_005272173.1:c.*1368G>A	XP_005272230.1:n.*1368G>A
XM_011518404.1:c.*1368G>A	XP_011516706.1:n.*1368G>A
XM_011518405.1:c.*1368G>A	XP_011516707.1:n.*1368G>A
XR_929739.1:n.9318G>A
NM_001351527.1:c.*1368G>A	NP_001338456.1:n.*1368G>A
NM_001351528.1:c.*1368G>A	NP_001338457.1:n.*1368G>A
NM_015046.6:c.*1368G>A	NP_055861.3:n.*1368G>A
XM_017014496.1:c.*1368G>A	XP_016869985.1:n.*1368G>A
XR_001746251.1:n.8957G>A
XR_929739.2:n.9318G>A
NM_015046.7:c.*1368G>A MANE Select	NP_055861.3:n.*1368G>A
NM_001351528.2:c.*1368G>A	NP_001338457.1:n.*1368G>A
NM_001351527.2:c.*1368G>A	NP_001338456.1:n.*1368G>A