Canonical Allele Identifier: CA5296378

Gene: SETX

Linked Data

• ClinVar Variation Id: 448347
• ClinVar RCV Id: RCV000516539 ; RCV000531955 ; RCV001509372 ; RCV002395238 ; RCV004541622
• dbSNP Id: rs61735488
• ExAC: 9:135140170 C / T
• gnomAD v2: 9-135140170-C-T
• gnomAD v3: 9-132264783-C-T
• gnomAD v4: 9-132264783-C-T
• MyVariant Identifiers: chr9:g.135140170C>T (hg19) ; chr9:g.132264783C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132264783C>T , CM000671.2:g.132264783C>T	GRCh38
NC_000009.11:g.135140170C>T , CM000671.1:g.135140170C>T	GRCh37
NC_000009.10:g.134129991C>T	NCBI36
NG_007946.1:g.95203G>A , LRG_268:g.95203G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.7490G>A MANE Select	ENSP00000224140.5:p.Ser2497Asn
ENST00000224140.5:c.7490G>A	ENSP00000224140.5:p.Ser2497Asn
ENST00000436441.5:c.2303G>A	ENSP00000409143.1:p.Ser768Asn
ENST00000477049.1:n.640G>A
NM_015046.5:c.7490G>A , LRG_268t1:c.7490G>A	NP_055861.3:p.Ser2497Asn
XM_005272171.1:c.7577G>A	XP_005272228.1:p.Ser2526Asn
XM_005272172.1:c.7577G>A	XP_005272229.1:p.Ser2526Asn
XM_005272173.1:c.7577G>A	XP_005272230.1:p.Ser2526Asn
XM_011518404.1:c.7577G>A	XP_011516706.1:p.Ser2526Asn
XM_011518405.1:c.7577G>A	XP_011516707.1:p.Ser2526Asn
XR_929739.1:n.7406G>A
NM_001351527.1:c.7490G>A	NP_001338456.1:p.Ser2497Asn
NM_001351528.1:c.7577G>A	NP_001338457.1:p.Ser2526Asn
NM_015046.6:c.7490G>A	NP_055861.3:p.Ser2497Asn
XM_005272172.3:c.7577G>A	XP_005272229.1:p.Ser2526Asn
XM_005272173.3:c.7577G>A	XP_005272230.1:p.Ser2526Asn
XM_011518404.3:c.7577G>A	XP_011516706.1:p.Ser2526Asn
XM_011518405.3:c.7577G>A	XP_011516707.1:p.Ser2526Asn
XM_017014496.1:c.2030G>A	XP_016869985.1:p.Ser677Asn
XR_001746251.1:n.7045G>A
XR_929739.2:n.7406G>A
NM_015046.7:c.7490G>A MANE Select	NP_055861.3:p.Ser2497Asn
NM_001351528.2:c.7577G>A	NP_001338457.1:p.Ser2526Asn
NM_001351527.2:c.7490G>A	NP_001338456.1:p.Ser2497Asn