Canonical Allele Identifier: CA121315

Gene: PHF6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134425256C>T , CM000685.2:g.134425256C>T	GRCh38
NC_000023.10:g.133559286C>T , CM000685.1:g.133559286C>T	GRCh37
NC_000023.9:g.133386952C>T	NCBI36
NG_008886.1:g.56945C>T , LRG_629:g.56945C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001015877.2:c.1024C>T MANE Select	NP_001015877.1:p.Arg342Ter
ENST00000370803.8:c.1024C>T MANE Select	ENSP00000359839.4:p.Arg342Ter
NM_001015877.1:c.1024C>T , LRG_629t1:c.1024C>T	NP_001015877.1:p.Arg342Ter
NM_032458.2:c.1024C>T	NP_115834.1:p.Arg342Ter
NM_032458.3:c.1024C>T	NP_115834.1:p.Arg342Ter
ENST00000332070.7:c.1024C>T	ENSP00000329097.3:p.Arg342Ter
ENST00000370803.7:c.1024C>T	ENSP00000359839.3:p.Arg342Ter
ENST00000625464.2:c.1027C>T	ENSP00000487420.1:p.Arg343Ter
ENST00000685553.1:c.*943C>T	ENSP00000510193.1:n.*943C>T
ENST00000687496.1:c.922C>T	ENSP00000509551.1:p.Arg308Ter
ENST00000688598.1:c.922C>T	ENSP00000510410.1:p.Arg308Ter
ENST00000691812.1:c.1024C>T	ENSP00000510211.1:p.Arg342Ter
ENST00000693759.1:c.*636C>T	ENSP00000509518.1:n.*636C>T