Canonical Allele Identifier: CA2459717457

Gene: PHF6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413870A= , CM000685.2:g.134413870A=	GRCh38
NC_000023.10:g.133547900A= , CM000685.1:g.133547900A=	GRCh37
NC_000023.9:g.133375566A=	NCBI36
NG_008886.1:g.45559A= , LRG_629:g.45559A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*552A=	ENSP00000510193.1:n.*552A=
ENST00000687496.1:c.531A=	ENSP00000509551.1:p.Lys177=
ENST00000688598.1:c.531A=	ENSP00000510410.1:p.Lys177=
ENST00000691812.1:c.633A=	ENSP00000510211.1:p.Lys211=
ENST00000693759.1:c.*245A=	ENSP00000509518.1:n.*245A=
ENST00000370803.8:c.633A= MANE Select	ENSP00000359839.4:p.Lys211=
ENST00000332070.7:c.633A=	ENSP00000329097.3:p.Lys211=
ENST00000370799.5:c.636A=	ENSP00000359835.1:p.Lys212=
ENST00000370800.4:c.636A=	ENSP00000359836.4:p.Lys212=
ENST00000370803.7:c.633A=	ENSP00000359839.3:p.Lys211=
ENST00000625464.2:c.636A=	ENSP00000487420.1:p.Lys212=
NM_001015877.1:c.633A= , LRG_629t1:c.633A=	NP_001015877.1:p.Lys211=
NM_032335.3:c.636A= , LRG_629t2:c.636A=	NP_115711.2:p.Lys212=
NM_032458.2:c.633A=	NP_115834.1:p.Lys211=
NM_001015877.2:c.633A= MANE Select	NP_001015877.1:p.Lys211=
NM_032458.3:c.633A=	NP_115834.1:p.Lys211=