Canonical Allele Identifier: CA413253428

Gene: PHF8

Linked Data

• gnomAD v4: X-53985216-G-T
• MyVariant Identifiers: chrX:g.54011649G>T (hg19) ; chrX:g.53985216G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53985216G>T , CM000685.2:g.53985216G>T	GRCh38
NC_000023.10:g.54011649G>T , CM000685.1:g.54011649G>T	GRCh37
NC_000023.9:g.54028374G>T	NCBI36
NG_021309.1:g.64921C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.1838C>A	ENSP00000340051.7:p.Ala613Asp
ENST00000396282.7:c.2141C>A	ENSP00000379578.3:p.Ala714Asp
ENST00000686349.1:c.*596C>A	ENSP00000510424.1:n.*596C>A
ENST00000687764.1:c.*1583C>A	ENSP00000509967.1:n.*1583C>A
ENST00000691629.1:n.1505C>A
ENST00000338154.11:c.2141C>A MANE Select	ENSP00000338868.6:p.Ala714Asp
ENST00000322659.12:c.2090C>A	ENSP00000319473.8:p.Ala697Asp
ENST00000338154.10:c.2141C>A	ENSP00000338868.6:p.Ala714Asp
ENST00000338946.10:c.1838C>A	ENSP00000340051.6:p.Ala613Asp
ENST00000357988.9:c.2249C>A	ENSP00000350676.5:p.Ala750Asp
ENST00000396282.6:c.1852C>A
ENST00000443302.5:c.1431C>A
ENST00000615775.4:c.568C>A	ENSP00000482159.1:p.Leu190Ile
NM_001184896.1:c.2249C>A	NP_001171825.1:p.Ala750Asp
NM_001184897.1:c.1838C>A	NP_001171826.1:p.Ala613Asp
NM_001184898.1:c.2090C>A	NP_001171827.1:p.Ala697Asp
NM_015107.2:c.2141C>A	NP_055922.1:p.Ala714Asp
XM_005261996.1:c.2249C>A	XP_005262053.1:p.Ala750Asp
XM_005261997.2:c.2141C>A	XP_005262054.1:p.Ala714Asp
XM_005261999.1:c.2141C>A	XP_005262056.1:p.Ala714Asp
XM_005262000.1:c.1946C>A	XP_005262057.1:p.Ala649Asp
XM_006724585.1:c.2249C>A	XP_006724648.1:p.Ala750Asp
XM_011530778.1:c.2249C>A	XP_011529080.1:p.Ala750Asp
XM_005261997.4:c.2141C>A	XP_005262054.1:p.Ala714Asp
XM_017029361.2:c.2141C>A	XP_016884850.1:p.Ala714Asp
XM_017029362.2:c.2141C>A	XP_016884851.1:p.Ala714Asp
NM_001184898.2:c.2090C>A	NP_001171827.1:p.Ala697Asp
NM_015107.3:c.2141C>A MANE Select	NP_055922.1:p.Ala714Asp
NM_001184897.2:c.1838C>A	NP_001171826.1:p.Ala613Asp