Canonical Allele Identifier: CA2459717802

Gene: PHF6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134415055A= , CM000685.2:g.134415055A=	GRCh38
NC_000023.10:g.133549085A= , CM000685.1:g.133549085A=	GRCh37
NC_000023.9:g.133376751A=	NCBI36
NG_008886.1:g.46744A= , LRG_629:g.46744A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*688A=	ENSP00000510193.1:n.*688A=
ENST00000687496.1:c.667A=	ENSP00000509551.1:p.Arg223=
ENST00000688598.1:c.667A=	ENSP00000510410.1:p.Arg223=
ENST00000691812.1:c.769A=	ENSP00000510211.1:p.Arg257=
ENST00000693759.1:c.*381A=	ENSP00000509518.1:n.*381A=
ENST00000370803.8:c.769A= MANE Select	ENSP00000359839.4:p.Arg257=
ENST00000332070.7:c.769A=	ENSP00000329097.3:p.Arg257=
ENST00000370799.5:c.772A=	ENSP00000359835.1:p.Arg258=
ENST00000370800.4:c.772A=	ENSP00000359836.4:p.Arg258=
ENST00000370803.7:c.769A=	ENSP00000359839.3:p.Arg257=
ENST00000625464.2:c.772A=	ENSP00000487420.1:p.Arg258=
NM_001015877.1:c.769A= , LRG_629t1:c.769A=	NP_001015877.1:p.Arg257=
NM_032335.3:c.772A= , LRG_629t2:c.772A=	NP_115711.2:p.Arg258=
NM_032458.2:c.769A=	NP_115834.1:p.Arg257=
NM_001015877.2:c.769A= MANE Select	NP_001015877.1:p.Arg257=
NM_032458.3:c.769A=	NP_115834.1:p.Arg257=