Canonical Allele Identifier: CA414712822

Gene: PHF6

Linked Data

• MyVariant Identifiers: chrX:g.133547879C>G (hg19) ; chrX:g.134413849C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413849C>G , CM000685.2:g.134413849C>G	GRCh38
NC_000023.10:g.133547879C>G , CM000685.1:g.133547879C>G	GRCh37
NC_000023.9:g.133375545C>G	NCBI36
NG_008886.1:g.45538C>G , LRG_629:g.45538C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000685553.1:c.*531C>G	ENSP00000510193.1:n.*531C>G
ENST00000687496.1:c.510C>G	ENSP00000509551.1:p.Ser170Arg
ENST00000688598.1:c.510C>G	ENSP00000510410.1:p.Ser170Arg
ENST00000691812.1:c.612C>G	ENSP00000510211.1:p.Ser204Arg
ENST00000693759.1:c.*224C>G	ENSP00000509518.1:n.*224C>G
ENST00000370803.8:c.612C>G MANE Select	ENSP00000359839.4:p.Ser204Arg
ENST00000332070.7:c.612C>G	ENSP00000329097.3:p.Ser204Arg
ENST00000370799.5:c.615C>G	ENSP00000359835.1:p.Ser205Arg
ENST00000370800.4:c.615C>G	ENSP00000359836.4:p.Ser205Arg
ENST00000370803.7:c.612C>G	ENSP00000359839.3:p.Ser204Arg
ENST00000625464.2:c.615C>G	ENSP00000487420.1:p.Ser205Arg
NM_001015877.1:c.612C>G , LRG_629t1:c.612C>G	NP_001015877.1:p.Ser204Arg
NM_032335.3:c.615C>G , LRG_629t2:c.615C>G	NP_115711.2:p.Ser205Arg
NM_032458.2:c.612C>G	NP_115834.1:p.Ser204Arg
NM_001015877.2:c.612C>G MANE Select	NP_001015877.1:p.Ser204Arg
NM_032458.3:c.612C>G	NP_115834.1:p.Ser204Arg