Canonical Allele Identifier: CA1274778624

Gene: RFX8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101413049C= , CM000664.2:g.101413049C=	GRCh38
NC_000002.11:g.102029511C= , CM000664.1:g.102029511C=	GRCh37
NC_000002.10:g.101395943C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.923G=	ENSP00000494249.2:p.Ser308=
ENST00000428343.6:c.584G= MANE Select	ENSP00000401536.1:p.Ser195=
ENST00000646446.1:c.797G=	ENSP00000494216.1:p.Ser266=
ENST00000646893.1:c.710G=	ENSP00000494249.1:p.Ser237=
ENST00000428343.5:c.584G=	ENSP00000401536.1:p.Ser195=
ENST00000481179.5:c.*300G=	ENSP00000422968.1:n.*300G=
NM_001145664.1:c.584G=	NP_001139136.1:p.Ser195=
XM_011511771.1:c.812G=	XP_011510073.1:p.Ser271=
XM_011511772.1:c.797G=	XP_011510074.1:p.Ser266=
XM_011511773.1:c.494G=	XP_011510075.1:p.Ser165=
XM_011511774.1:c.812G=	XP_011510076.1:p.Ser271=
XM_011511775.1:c.812G=	XP_011510077.1:p.Ser271=
XM_011511776.1:c.296G=	XP_011510078.1:p.Ser99=
XM_011511777.1:c.296G=	XP_011510079.1:p.Ser99=
XM_011511778.1:c.296G=	XP_011510080.1:p.Ser99=
XM_011511779.1:c.753G=	XP_011510081.1:p.Lys251=
XM_011511771.2:c.812G=	XP_011510073.1:p.Ser271=
XM_011511777.2:c.296G=	XP_011510079.1:p.Ser99=
XM_017004851.1:c.923G=	XP_016860340.1:p.Ser308=
XM_017004852.1:c.710G=	XP_016860341.1:p.Ser237=
XM_017004853.1:c.923G=	XP_016860342.1:p.Ser308=
XM_017004854.1:c.923G=	XP_016860343.1:p.Ser308=
XR_001738924.1:n.867G=
NM_001145664.2:c.584G= MANE Select	NP_001139136.2:p.Ser195=
NM_001367508.1:c.71G=	NP_001354437.1:p.Ser24=
NM_001367509.1:c.71G=	NP_001354438.1:p.Ser24=
NM_001367510.1:c.71G=	NP_001354439.1:p.Ser24=