Canonical Allele Identifier: CA10632888

Gene: SETX

Linked Data

• ClinVar Variation Id: 365326
• ClinVar RCV Id: RCV000277680 ; RCV000367475
• dbSNP Id: rs17148857
• gnomAD v2: 9-135138909-A-G
• gnomAD v3: 9-132263522-A-G
• gnomAD v4: 9-132263522-A-G
• MyVariant Identifiers: chr9:g.135138909A>G (hg19) ; chr9:g.132263522A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132263522A>G , CM000671.2:g.132263522A>G	GRCh38
NC_000009.11:g.135138909A>G , CM000671.1:g.135138909A>G	GRCh37
NC_000009.10:g.134128730A>G	NCBI36
NG_007946.1:g.96464T>C , LRG_268:g.96464T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.*717T>C MANE Select	ENSP00000224140.5:n.*717T>C
ENST00000224140.5:c.*717T>C	ENSP00000224140.5:n.*717T>C
ENST00000436441.5:c.3564T>C	ENSP00000409143.1:n.3564T>C
ENST00000477049.1:n.1901T>C
NM_015046.5:c.*717T>C , LRG_268t1:c.*717T>C	NP_055861.3:n.*717T>C
XM_005272171.1:c.*717T>C	XP_005272228.1:n.*717T>C
XM_005272172.1:c.*717T>C	XP_005272229.1:n.*717T>C
XM_005272173.1:c.*717T>C	XP_005272230.1:n.*717T>C
XM_011518404.1:c.*717T>C	XP_011516706.1:n.*717T>C
XM_011518405.1:c.*717T>C	XP_011516707.1:n.*717T>C
XR_929739.1:n.8667T>C
NM_001351527.1:c.*717T>C	NP_001338456.1:n.*717T>C
NM_001351528.1:c.*717T>C	NP_001338457.1:n.*717T>C
NM_015046.6:c.*717T>C	NP_055861.3:n.*717T>C
XM_017014496.1:c.*717T>C	XP_016869985.1:n.*717T>C
XR_001746251.1:n.8306T>C
XR_929739.2:n.8667T>C
NM_015046.7:c.*717T>C MANE Select	NP_055861.3:n.*717T>C
NM_001351528.2:c.*717T>C	NP_001338457.1:n.*717T>C
NM_001351527.2:c.*717T>C	NP_001338456.1:n.*717T>C