Canonical Allele Identifier: CA414713137

Gene: PHF6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134415029G>T , CM000685.2:g.134415029G>T	GRCh38
NC_000023.10:g.133549059G>T , CM000685.1:g.133549059G>T	GRCh37
NC_000023.9:g.133376725G>T	NCBI36
NG_008886.1:g.46718G>T , LRG_629:g.46718G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001015877.2:c.743G>T MANE Select	NP_001015877.1:p.Gly248Val
ENST00000370803.8:c.743G>T MANE Select	ENSP00000359839.4:p.Gly248Val
NM_001015877.1:c.743G>T , LRG_629t1:c.743G>T	NP_001015877.1:p.Gly248Val
NM_032335.3:c.746G>T , LRG_629t2:c.746G>T	NP_115711.2:p.Gly249Val
NM_032458.2:c.743G>T	NP_115834.1:p.Gly248Val
NM_032458.3:c.743G>T	NP_115834.1:p.Gly248Val
ENST00000332070.7:c.743G>T	ENSP00000329097.3:p.Gly248Val
ENST00000370799.5:c.746G>T	ENSP00000359835.1:p.Gly249Val
ENST00000370800.4:c.746G>T	ENSP00000359836.4:p.Gly249Val
ENST00000370803.7:c.743G>T	ENSP00000359839.3:p.Gly248Val
ENST00000625464.2:c.746G>T	ENSP00000487420.1:p.Gly249Val
ENST00000685553.1:c.*662G>T	ENSP00000510193.1:n.*662G>T
ENST00000687496.1:c.641G>T	ENSP00000509551.1:p.Gly214Val
ENST00000688598.1:c.641G>T	ENSP00000510410.1:p.Gly214Val
ENST00000691812.1:c.743G>T	ENSP00000510211.1:p.Gly248Val
ENST00000693759.1:c.*355G>T	ENSP00000509518.1:n.*355G>T