Canonical Allele Identifier: CA397731144

Gene: PHF23

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7235668C>A , CM000679.2:g.7235668C>A	GRCh38
NC_000017.10:g.7138987C>A , CM000679.1:g.7138987C>A	GRCh37
NC_000017.9:g.7079711C>A	NCBI36
NG_033038.1:g.3877G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024297.3:c.1170G>T MANE Select	NP_077273.2:p.Glu390Asp
ENST00000320316.8:c.1170G>T MANE Select	ENSP00000322579.3:p.Glu390Asp
NM_001284517.1:c.969G>T	NP_001271446.1:p.Glu323Asp
NM_001284517.2:c.969G>T	NP_001271446.1:p.Glu323Asp
NM_001284518.1:c.1158G>T	NP_001271447.1:p.Glu386Asp
NM_001284518.2:c.1158G>T	NP_001271447.1:p.Glu386Asp
NM_024297.2:c.1170G>T	NP_077273.2:p.Glu390Asp
ENST00000320316.7:c.1170G>T	ENSP00000322579.3:p.Glu390Asp
ENST00000454255.6:c.1158G>T	ENSP00000414607.2:p.Glu386Asp
ENST00000571362.5:c.969G>T	ENSP00000460738.1:p.Glu323Asp
ENST00000576955.5:c.780G>T	ENSP00000458953.1:p.Glu260Asp
ENST00000613632.4:c.808G>T	ENSP00000479592.1:n.808G>T
XM_005256804.2:c.780G>T	XP_005256861.1:p.Glu260Asp
XM_006721576.2:c.1182G>T	XP_006721639.1:p.Glu394Asp
XM_024450938.1:c.1182G>T	XP_024306706.1:p.Glu394Asp
XM_024450939.1:c.780G>T	XP_024306707.1:p.Glu260Asp
XM_024450940.1:c.780G>T	XP_024306708.1:p.Glu260Asp
XM_024450941.1:c.780G>T	XP_024306709.1:p.Glu260Asp
XM_024450942.1:c.780G>T	XP_024306710.1:p.Glu260Asp