Canonical Allele Identifier: CA860636171

Gene: SETX

Linked Data

• dbSNP Id: rs1483050526
• MyVariant Identifiers: chr9:g.135172250A>C (hg19) ; chr9:g.132296863A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132296863A>C , CM000671.2:g.132296863A>C	GRCh38
NC_000009.11:g.135172250A>C , CM000671.1:g.135172250A>C	GRCh37
NC_000009.10:g.134162071A>C	NCBI36
NG_007946.1:g.63123T>G , LRG_268:g.63123T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.5949+24T>G MANE Select	ENSP00000224140.5:n.5949+24T>G
ENST00000224140.5:c.5949+24T>G	ENSP00000224140.5:n.5949+24T>G
ENST00000436441.5:c.675+24T>G	ENSP00000409143.1:n.675+24T>G
NM_015046.5:c.5949+24T>G , LRG_268t1:c.5949+24T>G	NP_055861.3:n.5949+24T>G
XM_005272171.1:c.5949+24T>G	XP_005272228.1:n.5949+24T>G
XM_005272172.1:c.5949+24T>G	XP_005272229.1:n.5949+24T>G
XM_005272173.1:c.5949+24T>G	XP_005272230.1:n.5949+24T>G
XM_011518404.1:c.5949+24T>G	XP_011516706.1:n.5949+24T>G
XM_011518405.1:c.5949+24T>G	XP_011516707.1:n.5949+24T>G
XM_011518406.1:c.5949+24T>G	XP_011516708.1:n.5949+24T>G
XM_011518407.1:c.5949+24T>G	XP_011516709.1:n.5949+24T>G
XM_011518408.1:c.5949+24T>G	XP_011516710.1:n.5949+24T>G
XR_929739.1:n.5865+24T>G
NM_001351527.1:c.5949+24T>G	NP_001338456.1:n.5949+24T>G
NM_001351528.1:c.5949+24T>G	NP_001338457.1:n.5949+24T>G
NM_015046.6:c.5949+24T>G	NP_055861.3:n.5949+24T>G
XM_005272172.3:c.5949+24T>G	XP_005272229.1:n.5949+24T>G
XM_005272173.3:c.5949+24T>G	XP_005272230.1:n.5949+24T>G
XM_011518404.3:c.5949+24T>G	XP_011516706.1:n.5949+24T>G
XM_011518405.3:c.5949+24T>G	XP_011516707.1:n.5949+24T>G
XM_011518406.2:c.5949+24T>G	XP_011516708.1:n.5949+24T>G
XM_011518408.3:c.5949+24T>G	XP_011516710.1:n.5949+24T>G
XM_017014496.1:c.402+24T>G	XP_016869985.1:n.402+24T>G
XR_001746251.1:n.5504+24T>G
XR_929739.2:n.5865+24T>G
NM_015046.7:c.5949+24T>G MANE Select	NP_055861.3:n.5949+24T>G
NM_001351528.2:c.5949+24T>G	NP_001338457.1:n.5949+24T>G
NM_001351527.2:c.5949+24T>G	NP_001338456.1:n.5949+24T>G