Canonical Allele Identifier: CA5296977

Gene: SETX

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132300735G>C , CM000671.2:g.132300735G>C	GRCh38
NC_000009.11:g.135176122G>C , CM000671.1:g.135176122G>C	GRCh37
NC_000009.10:g.134165943G>C	NCBI36
NG_007946.1:g.59251C>G , LRG_268:g.59251C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015046.7:c.5443C>G MANE Select	NP_055861.3:p.Pro1815Ala
ENST00000224140.6:c.5443C>G MANE Select	ENSP00000224140.5:p.Pro1815Ala
NM_001351527.1:c.5443C>G	NP_001338456.1:p.Pro1815Ala
NM_001351527.2:c.5443C>G	NP_001338456.1:p.Pro1815Ala
NM_001351528.1:c.5443C>G	NP_001338457.1:p.Pro1815Ala
NM_001351528.2:c.5443C>G	NP_001338457.1:p.Pro1815Ala
NM_015046.5:c.5443C>G , LRG_268t1:c.5443C>G	NP_055861.3:p.Pro1815Ala
NM_015046.6:c.5443C>G	NP_055861.3:p.Pro1815Ala
ENST00000224140.5:c.5443C>G	ENSP00000224140.5:p.Pro1815Ala
ENST00000436441.5:c.169C>G	ENSP00000409143.1:p.Pro57Ala
XM_005272171.1:c.5443C>G	XP_005272228.1:p.Pro1815Ala
XM_005272172.1:c.5443C>G	XP_005272229.1:p.Pro1815Ala
XM_005272172.3:c.5443C>G	XP_005272229.1:p.Pro1815Ala
XM_005272173.1:c.5443C>G	XP_005272230.1:p.Pro1815Ala
XM_005272173.3:c.5443C>G	XP_005272230.1:p.Pro1815Ala
XM_011518404.1:c.5443C>G	XP_011516706.1:p.Pro1815Ala
XM_011518404.3:c.5443C>G	XP_011516706.1:p.Pro1815Ala
XM_011518405.1:c.5443C>G	XP_011516707.1:p.Pro1815Ala
XM_011518405.3:c.5443C>G	XP_011516707.1:p.Pro1815Ala
XM_011518406.1:c.5443C>G	XP_011516708.1:p.Pro1815Ala
XM_011518406.2:c.5443C>G	XP_011516708.1:p.Pro1815Ala
XM_011518407.1:c.5443C>G	XP_011516709.1:p.Pro1815Ala
XM_011518408.1:c.5443C>G	XP_011516710.1:p.Pro1815Ala
XM_011518408.3:c.5443C>G	XP_011516710.1:p.Pro1815Ala
XM_017014496.1:c.-105C>G	XP_016869985.1:n.-105C>G
XR_001746251.1:n.4998C>G
XR_929739.1:n.5359C>G
XR_929739.2:n.5359C>G