Canonical Allele Identifier: CA5297098

Gene: SETX

Linked Data

• ClinVar Variation Id: 468516
• ClinVar RCV Id: RCV000558440 ; RCV000859806 ; RCV001644653 ; RCV002341378 ; RCV001848953 ; RCV004538011
• dbSNP Id: rs146873848
• ExAC: 9:135202003 G / C
• gnomAD v2: 9-135202003-G-C
• gnomAD v3: 9-132326616-G-C
• gnomAD v4: 9-132326616-G-C
• MyVariant Identifiers: chr9:g.135202003G>C (hg19) ; chr9:g.132326616G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132326616G>C , CM000671.2:g.132326616G>C	GRCh38
NC_000009.11:g.135202003G>C , CM000671.1:g.135202003G>C	GRCh37
NC_000009.10:g.134191824G>C	NCBI36
NG_007946.1:g.33370C>G , LRG_268:g.33370C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.4982C>G MANE Select	ENSP00000224140.5:p.Pro1661Arg
ENST00000224140.5:c.4982C>G	ENSP00000224140.5:p.Pro1661Arg
NM_015046.5:c.4982C>G , LRG_268t1:c.4982C>G	NP_055861.3:p.Pro1661Arg
XM_005272171.1:c.4982C>G	XP_005272228.1:p.Pro1661Arg
XM_005272172.1:c.4982C>G	XP_005272229.1:p.Pro1661Arg
XM_005272173.1:c.4982C>G	XP_005272230.1:p.Pro1661Arg
XM_011518404.1:c.4982C>G	XP_011516706.1:p.Pro1661Arg
XM_011518405.1:c.4982C>G	XP_011516707.1:p.Pro1661Arg
XM_011518406.1:c.4982C>G	XP_011516708.1:p.Pro1661Arg
XM_011518407.1:c.4982C>G	XP_011516709.1:p.Pro1661Arg
XM_011518408.1:c.4982C>G	XP_011516710.1:p.Pro1661Arg
XR_929739.1:n.5166C>G
NM_001351527.1:c.4982C>G	NP_001338456.1:p.Pro1661Arg
NM_001351528.1:c.4982C>G	NP_001338457.1:p.Pro1661Arg
NM_015046.6:c.4982C>G	NP_055861.3:p.Pro1661Arg
XM_005272172.3:c.4982C>G	XP_005272229.1:p.Pro1661Arg
XM_005272173.3:c.4982C>G	XP_005272230.1:p.Pro1661Arg
XM_011518404.3:c.4982C>G	XP_011516706.1:p.Pro1661Arg
XM_011518405.3:c.4982C>G	XP_011516707.1:p.Pro1661Arg
XM_011518406.2:c.4982C>G	XP_011516708.1:p.Pro1661Arg
XM_011518408.3:c.4982C>G	XP_011516710.1:p.Pro1661Arg
XM_017014496.1:c.-274+337C>G	XP_016869985.1:n.-274+337C>G
XR_001746251.1:n.4829+337C>G
XR_929739.2:n.5166C>G
NM_015046.7:c.4982C>G MANE Select	NP_055861.3:p.Pro1661Arg
NM_001351528.2:c.4982C>G	NP_001338457.1:p.Pro1661Arg
NM_001351527.2:c.4982C>G	NP_001338456.1:p.Pro1661Arg