Canonical Allele Identifier: CA413252501

Gene: PHF8

Linked Data

• dbSNP Id: rs1569526730
• gnomAD v4: X-53985077-A-G
• MyVariant Identifiers: chrX:g.54011510A>G (hg19) ; chrX:g.53985077A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53985077A>G , CM000685.2:g.53985077A>G	GRCh38
NC_000023.10:g.54011510A>G , CM000685.1:g.54011510A>G	GRCh37
NC_000023.9:g.54028235A>G	NCBI36
NG_021309.1:g.65060T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.1977T>C	ENSP00000340051.7:p.Ser659=
ENST00000396282.7:c.2280T>C	ENSP00000379578.3:p.Ser760=
ENST00000686349.1:c.*735T>C	ENSP00000510424.1:n.*735T>C
ENST00000687764.1:c.*1722T>C	ENSP00000509967.1:n.*1722T>C
ENST00000691629.1:n.1644T>C
ENST00000338154.11:c.2280T>C MANE Select	ENSP00000338868.6:p.Ser760=
ENST00000322659.12:c.2229T>C	ENSP00000319473.8:p.Ser743=
ENST00000338154.10:c.2280T>C	ENSP00000338868.6:p.Ser760=
ENST00000338946.10:c.1977T>C	ENSP00000340051.6:p.Ser659=
ENST00000357988.9:c.2388T>C	ENSP00000350676.5:p.Ser796=
ENST00000396282.6:c.1991T>C
ENST00000443302.5:c.1570T>C
ENST00000615775.4:c.707T>C	ENSP00000482159.1:p.Val236Ala
NM_001184896.1:c.2388T>C	NP_001171825.1:p.Ser796=
NM_001184897.1:c.1977T>C	NP_001171826.1:p.Ser659=
NM_001184898.1:c.2229T>C	NP_001171827.1:p.Ser743=
NM_015107.2:c.2280T>C	NP_055922.1:p.Ser760=
XM_005261996.1:c.2388T>C	XP_005262053.1:p.Ser796=
XM_005261997.2:c.2280T>C	XP_005262054.1:p.Ser760=
XM_005261999.1:c.2280T>C	XP_005262056.1:p.Ser760=
XM_005262000.1:c.2085T>C	XP_005262057.1:p.Ser695=
XM_006724585.1:c.2388T>C	XP_006724648.1:p.Ser796=
XM_011530778.1:c.2388T>C	XP_011529080.1:p.Ser796=
XM_005261997.4:c.2280T>C	XP_005262054.1:p.Ser760=
XM_017029361.2:c.2280T>C	XP_016884850.1:p.Ser760=
XM_017029362.2:c.2280T>C	XP_016884851.1:p.Ser760=
NM_001184898.2:c.2229T>C	NP_001171827.1:p.Ser743=
NM_015107.3:c.2280T>C MANE Select	NP_055922.1:p.Ser760=
NM_001184897.2:c.1977T>C	NP_001171826.1:p.Ser659=