Canonical Allele Identifier: CA413240934

Gene: PHF8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53940329G>A , CM000685.2:g.53940329G>A	GRCh38
NC_000023.10:g.53966762G>A , CM000685.1:g.53966762G>A	GRCh37
NC_000023.9:g.53983487G>A	NCBI36
NG_021309.1:g.109808C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.2534C>T	ENSP00000340051.7:p.Ser845Leu
ENST00000396282.7:c.2837C>T	ENSP00000379578.3:p.Ser946Leu
ENST00000686349.1:c.*1292C>T	ENSP00000510424.1:n.*1292C>T
ENST00000687283.1:n.504C>T
ENST00000687764.1:c.*2279C>T	ENSP00000509967.1:n.*2279C>T
ENST00000691629.1:n.2201C>T
ENST00000338154.11:c.2837C>T MANE Select	ENSP00000338868.6:p.Ser946Leu
ENST00000338154.10:c.2837C>T	ENSP00000338868.6:p.Ser946Leu
ENST00000338946.10:c.2534C>T	ENSP00000340051.6:p.Ser845Leu
ENST00000357988.9:c.2945C>T	ENSP00000350676.5:p.Ser982Leu
ENST00000396282.6:c.2548C>T
NM_001184896.1:c.2945C>T	NP_001171825.1:p.Ser982Leu
NM_001184897.1:c.2534C>T	NP_001171826.1:p.Ser845Leu
NM_015107.2:c.2837C>T	NP_055922.1:p.Ser946Leu
XM_005261996.1:c.2945C>T	XP_005262053.1:p.Ser982Leu
XM_005261997.2:c.2837C>T	XP_005262054.1:p.Ser946Leu
XM_005261999.1:c.2837C>T	XP_005262056.1:p.Ser946Leu
XM_005262000.1:c.2642C>T	XP_005262057.1:p.Ser881Leu
XM_011530778.1:c.2945C>T	XP_011529080.1:p.Ser982Leu
XM_005261997.4:c.2837C>T	XP_005262054.1:p.Ser946Leu
XM_017029361.2:c.2837C>T	XP_016884850.1:p.Ser946Leu
XM_017029362.2:c.2837C>T	XP_016884851.1:p.Ser946Leu
NM_015107.3:c.2837C>T MANE Select	NP_055922.1:p.Ser946Leu
NM_001184897.2:c.2534C>T	NP_001171826.1:p.Ser845Leu