Canonical Allele Identifier: CA375333427

Gene: SETX

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132281483G>T , CM000671.2:g.132281483G>T	GRCh38
NC_000009.11:g.135156870G>T , CM000671.1:g.135156870G>T	GRCh37
NC_000009.10:g.134146691G>T	NCBI36
NG_007946.1:g.78503C>A , LRG_268:g.78503C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015046.7:c.6638C>A MANE Select	NP_055861.3:p.Pro2213Gln
ENST00000224140.6:c.6638C>A MANE Select	ENSP00000224140.5:p.Pro2213Gln
NM_001351527.1:c.6638C>A	NP_001338456.1:p.Pro2213Gln
NM_001351527.2:c.6638C>A	NP_001338456.1:p.Pro2213Gln
NM_001351528.1:c.6638C>A	NP_001338457.1:p.Pro2213Gln
NM_001351528.2:c.6638C>A	NP_001338457.1:p.Pro2213Gln
NM_015046.5:c.6638C>A , LRG_268t1:c.6638C>A	NP_055861.3:p.Pro2213Gln
NM_015046.6:c.6638C>A	NP_055861.3:p.Pro2213Gln
ENST00000224140.5:c.6638C>A	ENSP00000224140.5:p.Pro2213Gln
ENST00000436441.5:c.1364C>A	ENSP00000409143.1:p.Pro455Gln
XM_005272171.1:c.6638C>A	XP_005272228.1:p.Pro2213Gln
XM_005272172.1:c.6638C>A	XP_005272229.1:p.Pro2213Gln
XM_005272172.3:c.6638C>A	XP_005272229.1:p.Pro2213Gln
XM_005272173.1:c.6638C>A	XP_005272230.1:p.Pro2213Gln
XM_005272173.3:c.6638C>A	XP_005272230.1:p.Pro2213Gln
XM_011518404.1:c.6638C>A	XP_011516706.1:p.Pro2213Gln
XM_011518404.3:c.6638C>A	XP_011516706.1:p.Pro2213Gln
XM_011518405.1:c.6638C>A	XP_011516707.1:p.Pro2213Gln
XM_011518405.3:c.6638C>A	XP_011516707.1:p.Pro2213Gln
XM_011518406.1:c.6638C>A	XP_011516708.1:p.Pro2213Gln
XM_011518406.2:c.6638C>A	XP_011516708.1:p.Pro2213Gln
XM_011518407.1:c.6638C>A	XP_011516709.1:p.Pro2213Gln
XM_017014496.1:c.1091C>A	XP_016869985.1:p.Pro364Gln
XR_001746251.1:n.6193C>A
XR_929739.1:n.6554C>A
XR_929739.2:n.6554C>A