Canonical Allele Identifier: CA2430030723

Gene: PHF8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53985225T= , CM000685.2:g.53985225T=	GRCh38
NC_000023.10:g.54011658T= , CM000685.1:g.54011658T=	GRCh37
NC_000023.9:g.54028383T=	NCBI36
NG_021309.1:g.64912A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.1829A=	ENSP00000340051.7:p.Glu610=
ENST00000396282.7:c.2132A=	ENSP00000379578.3:p.Glu711=
ENST00000686349.1:c.*587A=	ENSP00000510424.1:n.*587A=
ENST00000687764.1:c.*1574A=	ENSP00000509967.1:n.*1574A=
ENST00000691629.1:n.1496A=
ENST00000338154.11:c.2132A= MANE Select	ENSP00000338868.6:p.Glu711=
ENST00000322659.12:c.2081A=	ENSP00000319473.8:p.Glu694=
ENST00000338154.10:c.2132A=	ENSP00000338868.6:p.Glu711=
ENST00000338946.10:c.1829A=	ENSP00000340051.6:p.Glu610=
ENST00000357988.9:c.2240A=	ENSP00000350676.5:p.Glu747=
ENST00000396282.6:c.1843A=
ENST00000443302.5:c.1422A=
ENST00000615775.4:c.559A=	ENSP00000482159.1:p.Arg187=
NM_001184896.1:c.2240A=	NP_001171825.1:p.Glu747=
NM_001184897.1:c.1829A=	NP_001171826.1:p.Glu610=
NM_001184898.1:c.2081A=	NP_001171827.1:p.Glu694=
NM_015107.2:c.2132A=	NP_055922.1:p.Glu711=
XM_005261996.1:c.2240A=	XP_005262053.1:p.Glu747=
XM_005261997.2:c.2132A=	XP_005262054.1:p.Glu711=
XM_005261999.1:c.2132A=	XP_005262056.1:p.Glu711=
XM_005262000.1:c.1937A=	XP_005262057.1:p.Glu646=
XM_006724585.1:c.2240A=	XP_006724648.1:p.Glu747=
XM_011530778.1:c.2240A=	XP_011529080.1:p.Glu747=
XM_005261997.4:c.2132A=	XP_005262054.1:p.Glu711=
XM_017029361.2:c.2132A=	XP_016884850.1:p.Glu711=
XM_017029362.2:c.2132A=	XP_016884851.1:p.Glu711=
NM_001184898.2:c.2081A=	NP_001171827.1:p.Glu694=
NM_015107.3:c.2132A= MANE Select	NP_055922.1:p.Glu711=
NM_001184897.2:c.1829A=	NP_001171826.1:p.Glu610=