Canonical Allele Identifier: CA467504605

Gene: SETX

Linked Data

• dbSNP Id: rs1166857417
• gnomAD v4: 9-132264566-T-C
• MyVariant Identifiers: chr9:g.135139953T>C (hg19) ; chr9:g.132264566T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132264566T>C , CM000671.2:g.132264566T>C	GRCh38
NC_000009.11:g.135139953T>C , CM000671.1:g.135139953T>C	GRCh37
NC_000009.10:g.134129774T>C	NCBI36
NG_007946.1:g.95420A>G , LRG_268:g.95420A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000224140.6:c.7707A>G MANE Select	ENSP00000224140.5:p.Thr2569=
ENST00000224140.5:c.7707A>G	ENSP00000224140.5:p.Thr2569=
ENST00000436441.5:c.2520A>G	ENSP00000409143.1:p.Thr840=
ENST00000477049.1:n.857A>G
NM_015046.5:c.7707A>G , LRG_268t1:c.7707A>G	NP_055861.3:p.Thr2569=
XM_005272171.1:c.7794A>G	XP_005272228.1:p.Thr2598=
XM_005272172.1:c.7794A>G	XP_005272229.1:p.Thr2598=
XM_005272173.1:c.7794A>G	XP_005272230.1:p.Thr2598=
XM_011518404.1:c.7794A>G	XP_011516706.1:p.Thr2598=
XM_011518405.1:c.7794A>G	XP_011516707.1:p.Thr2598=
XR_929739.1:n.7623A>G
NM_001351527.1:c.7707A>G	NP_001338456.1:p.Thr2569=
NM_001351528.1:c.7794A>G	NP_001338457.1:p.Thr2598=
NM_015046.6:c.7707A>G	NP_055861.3:p.Thr2569=
XM_005272172.3:c.7794A>G	XP_005272229.1:p.Thr2598=
XM_005272173.3:c.7794A>G	XP_005272230.1:p.Thr2598=
XM_011518404.3:c.7794A>G	XP_011516706.1:p.Thr2598=
XM_011518405.3:c.7794A>G	XP_011516707.1:p.Thr2598=
XM_017014496.1:c.2247A>G	XP_016869985.1:p.Thr749=
XR_001746251.1:n.7262A>G
XR_929739.2:n.7623A>G
NM_015046.7:c.7707A>G MANE Select	NP_055861.3:p.Thr2569=
NM_001351528.2:c.7794A>G	NP_001338457.1:p.Thr2598=
NM_001351527.2:c.7707A>G	NP_001338456.1:p.Thr2569=