Canonical Allele Identifier: CA5297500

Gene: SETX

Linked Data

• ClinVar Variation Id: 440267
• ClinVar RCV Id: RCV000507293 ; RCV000552319 ; RCV001089104 ; RCV002438234 ; RCV004541589
• dbSNP Id: rs77984885
• ExAC: 9:135203975 T / C
• gnomAD v2: 9-135203975-T-C
• gnomAD v3: 9-132328588-T-C
• gnomAD v4: 9-132328588-T-C
• MyVariant Identifiers: chr9:g.135203975T>C (hg19) ; chr9:g.132328588T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132328588T>C , CM000671.2:g.132328588T>C	GRCh38
NC_000009.11:g.135203975T>C , CM000671.1:g.135203975T>C	GRCh37
NC_000009.10:g.134193796T>C	NCBI36
NG_007946.1:g.31398A>G , LRG_268:g.31398A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.3010A>G MANE Select	ENSP00000224140.5:p.Asn1004Asp
ENST00000224140.5:c.3010A>G	ENSP00000224140.5:p.Asn1004Asp
NM_015046.5:c.3010A>G , LRG_268t1:c.3010A>G	NP_055861.3:p.Asn1004Asp
XM_005272171.1:c.3010A>G	XP_005272228.1:p.Asn1004Asp
XM_005272172.1:c.3010A>G	XP_005272229.1:p.Asn1004Asp
XM_005272173.1:c.3010A>G	XP_005272230.1:p.Asn1004Asp
XM_011518404.1:c.3010A>G	XP_011516706.1:p.Asn1004Asp
XM_011518405.1:c.3010A>G	XP_011516707.1:p.Asn1004Asp
XM_011518406.1:c.3010A>G	XP_011516708.1:p.Asn1004Asp
XM_011518407.1:c.3010A>G	XP_011516709.1:p.Asn1004Asp
XM_011518408.1:c.3010A>G	XP_011516710.1:p.Asn1004Asp
XR_929739.1:n.3194A>G
NM_001351527.1:c.3010A>G	NP_001338456.1:p.Asn1004Asp
NM_001351528.1:c.3010A>G	NP_001338457.1:p.Asn1004Asp
NM_015046.6:c.3010A>G	NP_055861.3:p.Asn1004Asp
XM_005272172.3:c.3010A>G	XP_005272229.1:p.Asn1004Asp
XM_005272173.3:c.3010A>G	XP_005272230.1:p.Asn1004Asp
XM_011518404.3:c.3010A>G	XP_011516706.1:p.Asn1004Asp
XM_011518405.3:c.3010A>G	XP_011516707.1:p.Asn1004Asp
XM_011518406.2:c.3010A>G	XP_011516708.1:p.Asn1004Asp
XM_011518408.3:c.3010A>G	XP_011516710.1:p.Asn1004Asp
XR_001746251.1:n.3194A>G
XR_929739.2:n.3194A>G
NM_015046.7:c.3010A>G MANE Select	NP_055861.3:p.Asn1004Asp
NM_001351528.2:c.3010A>G	NP_001338457.1:p.Asn1004Asp
NM_001351527.2:c.3010A>G	NP_001338456.1:p.Asn1004Asp