Canonical Allele Identifier: CA5296363

Gene: SETX

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132264613A>G , CM000671.2:g.132264613A>G	GRCh38
NC_000009.11:g.135140000A>G , CM000671.1:g.135140000A>G	GRCh37
NC_000009.10:g.134129821A>G	NCBI36
NG_007946.1:g.95373T>C , LRG_268:g.95373T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.7660T>C MANE Select	ENSP00000224140.5:p.Phe2554Leu
ENST00000224140.5:c.7660T>C	ENSP00000224140.5:p.Phe2554Leu
ENST00000436441.5:c.2473T>C	ENSP00000409143.1:p.Phe825Leu
ENST00000477049.1:n.810T>C
NM_015046.5:c.7660T>C , LRG_268t1:c.7660T>C	NP_055861.3:p.Phe2554Leu
XM_005272171.1:c.7747T>C	XP_005272228.1:p.Phe2583Leu
XM_005272172.1:c.7747T>C	XP_005272229.1:p.Phe2583Leu
XM_005272173.1:c.7747T>C	XP_005272230.1:p.Phe2583Leu
XM_011518404.1:c.7747T>C	XP_011516706.1:p.Phe2583Leu
XM_011518405.1:c.7747T>C	XP_011516707.1:p.Phe2583Leu
XR_929739.1:n.7576T>C
NM_001351527.1:c.7660T>C	NP_001338456.1:p.Phe2554Leu
NM_001351528.1:c.7747T>C	NP_001338457.1:p.Phe2583Leu
NM_015046.6:c.7660T>C	NP_055861.3:p.Phe2554Leu
XM_005272172.3:c.7747T>C	XP_005272229.1:p.Phe2583Leu
XM_005272173.3:c.7747T>C	XP_005272230.1:p.Phe2583Leu
XM_011518404.3:c.7747T>C	XP_011516706.1:p.Phe2583Leu
XM_011518405.3:c.7747T>C	XP_011516707.1:p.Phe2583Leu
XM_017014496.1:c.2200T>C	XP_016869985.1:p.Phe734Leu
XR_001746251.1:n.7215T>C
XR_929739.2:n.7576T>C
NM_015046.7:c.7660T>C MANE Select	NP_055861.3:p.Phe2554Leu
NM_001351528.2:c.7747T>C	NP_001338457.1:p.Phe2583Leu
NM_001351527.2:c.7660T>C	NP_001338456.1:p.Phe2554Leu