Canonical Allele Identifier: CA1274778594

Gene: RFX8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412985A= , CM000664.2:g.101412985A=	GRCh38
NC_000002.11:g.102029447A= , CM000664.1:g.102029447A=	GRCh37
NC_000002.10:g.101395879A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.987T=	ENSP00000494249.2:p.Ala329=
ENST00000428343.6:c.648T= MANE Select	ENSP00000401536.1:p.Ala216=
ENST00000646446.1:c.861T=	ENSP00000494216.1:p.Ala287=
ENST00000646893.1:c.774T=	ENSP00000494249.1:p.Ala258=
ENST00000428343.5:c.648T=	ENSP00000401536.1:p.Ala216=
ENST00000481179.5:c.*364T=	ENSP00000422968.1:n.*364T=
NM_001145664.1:c.648T=	NP_001139136.1:p.Ala216=
XM_011511771.1:c.876T=	XP_011510073.1:p.Ala292=
XM_011511772.1:c.861T=	XP_011510074.1:p.Ala287=
XM_011511773.1:c.558T=	XP_011510075.1:p.Ala186=
XM_011511774.1:c.876T=	XP_011510076.1:p.Ala292=
XM_011511775.1:c.876T=	XP_011510077.1:p.Ala292=
XM_011511776.1:c.360T=	XP_011510078.1:p.Ala120=
XM_011511777.1:c.360T=	XP_011510079.1:p.Ala120=
XM_011511778.1:c.360T=	XP_011510080.1:p.Ala120=
XM_011511779.1:c.*61T=	XP_011510081.1:n.*61T=
XM_011511771.2:c.876T=	XP_011510073.1:p.Ala292=
XM_011511777.2:c.360T=	XP_011510079.1:p.Ala120=
XM_017004851.1:c.987T=	XP_016860340.1:p.Ala329=
XM_017004852.1:c.774T=	XP_016860341.1:p.Ala258=
XM_017004853.1:c.987T=	XP_016860342.1:p.Ala329=
XM_017004854.1:c.987T=	XP_016860343.1:p.Ala329=
XR_001738924.1:n.931T=
NM_001145664.2:c.648T= MANE Select	NP_001139136.2:p.Ala216=
NM_001367508.1:c.135T=	NP_001354437.1:p.Ala45=
NM_001367509.1:c.135T=	NP_001354438.1:p.Ala45=
NM_001367510.1:c.135T=	NP_001354439.1:p.Ala45=