Canonical Allele Identifier: CA10632576

Gene: SETX

Linked Data

• ClinVar Variation Id: 365320
• ClinVar RCV Id: RCV000317243 ; RCV000371968
• dbSNP Id: rs10491906
• gnomAD v2: 9-135138402-C-G
• gnomAD v3: 9-132263015-C-G
• gnomAD v4: 9-132263015-C-G
• MyVariant Identifiers: chr9:g.135138402C>G (hg19) ; chr9:g.132263015C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132263015C>G , CM000671.2:g.132263015C>G	GRCh38
NC_000009.11:g.135138402C>G , CM000671.1:g.135138402C>G	GRCh37
NC_000009.10:g.134128223C>G	NCBI36
NG_007946.1:g.96971G>C , LRG_268:g.96971G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.*1224G>C MANE Select	ENSP00000224140.5:n.*1224G>C
ENST00000224140.5:c.*1224G>C	ENSP00000224140.5:n.*1224G>C
ENST00000436441.5:c.4071G>C	ENSP00000409143.1:n.4071G>C
ENST00000477049.1:n.2408G>C
NM_015046.5:c.*1224G>C , LRG_268t1:c.*1224G>C	NP_055861.3:n.*1224G>C
XM_005272171.1:c.*1224G>C	XP_005272228.1:n.*1224G>C
XM_005272172.1:c.*1224G>C	XP_005272229.1:n.*1224G>C
XM_005272173.1:c.*1224G>C	XP_005272230.1:n.*1224G>C
XM_011518404.1:c.*1224G>C	XP_011516706.1:n.*1224G>C
XM_011518405.1:c.*1224G>C	XP_011516707.1:n.*1224G>C
XR_929739.1:n.9174G>C
NM_001351527.1:c.*1224G>C	NP_001338456.1:n.*1224G>C
NM_001351528.1:c.*1224G>C	NP_001338457.1:n.*1224G>C
NM_015046.6:c.*1224G>C	NP_055861.3:n.*1224G>C
XM_017014496.1:c.*1224G>C	XP_016869985.1:n.*1224G>C
XR_001746251.1:n.8813G>C
XR_929739.2:n.9174G>C
NM_015046.7:c.*1224G>C MANE Select	NP_055861.3:n.*1224G>C
NM_001351528.2:c.*1224G>C	NP_001338457.1:n.*1224G>C
NM_001351527.2:c.*1224G>C	NP_001338456.1:n.*1224G>C