Canonical Allele Identifier: CA200818726

Gene: SETX

Linked Data

• dbSNP Id: rs904278020
• gnomAD v3: 9-132296760-C-T
• gnomAD v4: 9-132296760-C-T
• MyVariant Identifiers: chr9:g.135172147C>T (hg19) ; chr9:g.132296760C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132296760C>T , CM000671.2:g.132296760C>T	GRCh38
NC_000009.11:g.135172147C>T , CM000671.1:g.135172147C>T	GRCh37
NC_000009.10:g.134161968C>T	NCBI36
NG_007946.1:g.63226G>A , LRG_268:g.63226G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.5949+127G>A MANE Select	ENSP00000224140.5:n.5949+127G>A
ENST00000224140.5:c.5949+127G>A	ENSP00000224140.5:n.5949+127G>A
ENST00000436441.5:c.675+127G>A	ENSP00000409143.1:n.675+127G>A
NM_015046.5:c.5949+127G>A , LRG_268t1:c.5949+127G>A	NP_055861.3:n.5949+127G>A
XM_005272171.1:c.5949+127G>A	XP_005272228.1:n.5949+127G>A
XM_005272172.1:c.5949+127G>A	XP_005272229.1:n.5949+127G>A
XM_005272173.1:c.5949+127G>A	XP_005272230.1:n.5949+127G>A
XM_011518404.1:c.5949+127G>A	XP_011516706.1:n.5949+127G>A
XM_011518405.1:c.5949+127G>A	XP_011516707.1:n.5949+127G>A
XM_011518406.1:c.5949+127G>A	XP_011516708.1:n.5949+127G>A
XM_011518407.1:c.5949+127G>A	XP_011516709.1:n.5949+127G>A
XM_011518408.1:c.5949+127G>A	XP_011516710.1:n.5949+127G>A
XR_929739.1:n.5865+127G>A
NM_001351527.1:c.5949+127G>A	NP_001338456.1:n.5949+127G>A
NM_001351528.1:c.5949+127G>A	NP_001338457.1:n.5949+127G>A
NM_015046.6:c.5949+127G>A	NP_055861.3:n.5949+127G>A
XM_005272172.3:c.5949+127G>A	XP_005272229.1:n.5949+127G>A
XM_005272173.3:c.5949+127G>A	XP_005272230.1:n.5949+127G>A
XM_011518404.3:c.5949+127G>A	XP_011516706.1:n.5949+127G>A
XM_011518405.3:c.5949+127G>A	XP_011516707.1:n.5949+127G>A
XM_011518406.2:c.5949+127G>A	XP_011516708.1:n.5949+127G>A
XM_011518408.3:c.5949+127G>A	XP_011516710.1:n.5949+127G>A
XM_017014496.1:c.402+127G>A	XP_016869985.1:n.402+127G>A
XR_001746251.1:n.5504+127G>A
XR_929739.2:n.5865+127G>A
NM_015046.7:c.5949+127G>A MANE Select	NP_055861.3:n.5949+127G>A
NM_001351528.2:c.5949+127G>A	NP_001338457.1:n.5949+127G>A
NM_001351527.2:c.5949+127G>A	NP_001338456.1:n.5949+127G>A