Canonical Allele Identifier: CA339634

Gene: PHF6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134393952G>A , CM000685.2:g.134393952G>A	GRCh38
NC_000023.10:g.133527982G>A , CM000685.1:g.133527982G>A	GRCh37
NC_000023.9:g.133355648G>A	NCBI36
NG_008886.1:g.25641G>A , LRG_629:g.25641G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001015877.2:c.418G>A MANE Select	NP_001015877.1:p.Ala140Thr
ENST00000370803.8:c.418G>A MANE Select	ENSP00000359839.4:p.Ala140Thr
NM_001015877.1:c.418G>A , LRG_629t1:c.418G>A	NP_001015877.1:p.Ala140Thr
NM_032335.3:c.418G>A , LRG_629t2:c.418G>A	NP_115711.2:p.Ala140Thr
NM_032458.2:c.418G>A	NP_115834.1:p.Ala140Thr
NM_032458.3:c.418G>A	NP_115834.1:p.Ala140Thr
ENST00000332070.7:c.418G>A	ENSP00000329097.3:p.Ala140Thr
ENST00000370799.5:c.418G>A	ENSP00000359835.1:p.Ala140Thr
ENST00000370800.4:c.418G>A	ENSP00000359836.4:p.Ala140Thr
ENST00000370803.7:c.418G>A	ENSP00000359839.3:p.Ala140Thr
ENST00000625464.2:c.418G>A	ENSP00000487420.1:p.Ala140Thr
ENST00000685047.1:c.418G>A	ENSP00000509894.1:p.Gly140Ser
ENST00000685553.1:c.*334G>A	ENSP00000510193.1:n.*334G>A
ENST00000687496.1:c.316G>A	ENSP00000509551.1:p.Ala106Thr
ENST00000688598.1:c.316G>A	ENSP00000510410.1:p.Ala106Thr
ENST00000691812.1:c.418G>A	ENSP00000510211.1:p.Ala140Thr
ENST00000693759.1:c.418G>A	ENSP00000509518.1:p.Val140Ile