Canonical Allele Identifier: CA413251980

Gene: PHF8

Linked Data

• gnomAD v4: X-53985002-G-A
• MyVariant Identifiers: chrX:g.54011435G>A (hg19) ; chrX:g.53985002G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53985002G>A , CM000685.2:g.53985002G>A	GRCh38
NC_000023.10:g.54011435G>A , CM000685.1:g.54011435G>A	GRCh37
NC_000023.9:g.54028160G>A	NCBI36
NG_021309.1:g.65135C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.2052C>T	ENSP00000340051.7:p.Tyr684=
ENST00000396282.7:c.2355C>T	ENSP00000379578.3:p.Tyr785=
ENST00000686349.1:c.*810C>T	ENSP00000510424.1:n.*810C>T
ENST00000687764.1:c.*1797C>T	ENSP00000509967.1:n.*1797C>T
ENST00000691629.1:n.1719C>T
ENST00000338154.11:c.2355C>T MANE Select	ENSP00000338868.6:p.Tyr785=
ENST00000322659.12:c.2304C>T	ENSP00000319473.8:p.Tyr768=
ENST00000338154.10:c.2355C>T	ENSP00000338868.6:p.Tyr785=
ENST00000338946.10:c.2052C>T	ENSP00000340051.6:p.Tyr684=
ENST00000357988.9:c.2463C>T	ENSP00000350676.5:p.Tyr821=
ENST00000396282.6:c.2066C>T
ENST00000443302.5:c.1645C>T
ENST00000615775.4:c.782C>T	ENSP00000482159.1:p.Thr261Ile
NM_001184896.1:c.2463C>T	NP_001171825.1:p.Tyr821=
NM_001184897.1:c.2052C>T	NP_001171826.1:p.Tyr684=
NM_001184898.1:c.2304C>T	NP_001171827.1:p.Tyr768=
NM_015107.2:c.2355C>T	NP_055922.1:p.Tyr785=
XM_005261996.1:c.2463C>T	XP_005262053.1:p.Tyr821=
XM_005261997.2:c.2355C>T	XP_005262054.1:p.Tyr785=
XM_005261999.1:c.2355C>T	XP_005262056.1:p.Tyr785=
XM_005262000.1:c.2160C>T	XP_005262057.1:p.Tyr720=
XM_006724585.1:c.2463C>T	XP_006724648.1:p.Tyr821=
XM_011530778.1:c.2463C>T	XP_011529080.1:p.Tyr821=
XM_005261997.4:c.2355C>T	XP_005262054.1:p.Tyr785=
XM_017029361.2:c.2355C>T	XP_016884850.1:p.Tyr785=
XM_017029362.2:c.2355C>T	XP_016884851.1:p.Tyr785=
NM_001184898.2:c.2304C>T	NP_001171827.1:p.Tyr768=
NM_015107.3:c.2355C>T MANE Select	NP_055922.1:p.Tyr785=
NM_001184897.2:c.2052C>T	NP_001171826.1:p.Tyr684=