Canonical Allele Identifier: CA414713227

Gene: PHF6

Linked Data

• COSMIC: COSM5427491 ; COSM5427492 ; COSM5427493
• MyVariant Identifiers: chrX:g.133549101A>T (hg19) ; chrX:g.134415071A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134415071A>T , CM000685.2:g.134415071A>T	GRCh38
NC_000023.10:g.133549101A>T , CM000685.1:g.133549101A>T	GRCh37
NC_000023.9:g.133376767A>T	NCBI36
NG_008886.1:g.46760A>T , LRG_629:g.46760A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*704A>T	ENSP00000510193.1:n.*704A>T
ENST00000687496.1:c.683A>T	ENSP00000509551.1:p.Asp228Val
ENST00000688598.1:c.683A>T	ENSP00000510410.1:p.Asp228Val
ENST00000691812.1:c.785A>T	ENSP00000510211.1:p.Asp262Val
ENST00000693759.1:c.*397A>T	ENSP00000509518.1:n.*397A>T
ENST00000370803.8:c.785A>T MANE Select	ENSP00000359839.4:p.Asp262Val
ENST00000332070.7:c.785A>T	ENSP00000329097.3:p.Asp262Val
ENST00000370799.5:c.788A>T	ENSP00000359835.1:p.Asp263Val
ENST00000370800.4:c.788A>T	ENSP00000359836.4:p.Asp263Val
ENST00000370803.7:c.785A>T	ENSP00000359839.3:p.Asp262Val
ENST00000625464.2:c.788A>T	ENSP00000487420.1:p.Asp263Val
NM_001015877.1:c.785A>T , LRG_629t1:c.785A>T	NP_001015877.1:p.Asp262Val
NM_032335.3:c.788A>T , LRG_629t2:c.788A>T	NP_115711.2:p.Asp263Val
NM_032458.2:c.785A>T	NP_115834.1:p.Asp262Val
NM_001015877.2:c.785A>T MANE Select	NP_001015877.1:p.Asp262Val
NM_032458.3:c.785A>T	NP_115834.1:p.Asp262Val