Canonical Allele Identifier: CA414712802

Gene: PHF6

Linked Data

• MyVariant Identifiers: chrX:g.133547872G>A (hg19) ; chrX:g.134413842G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413842G>A , CM000685.2:g.134413842G>A	GRCh38
NC_000023.10:g.133547872G>A , CM000685.1:g.133547872G>A	GRCh37
NC_000023.9:g.133375538G>A	NCBI36
NG_008886.1:g.45531G>A , LRG_629:g.45531G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000685553.1:c.*524G>A	ENSP00000510193.1:n.*524G>A
ENST00000687496.1:c.503G>A	ENSP00000509551.1:p.Arg168Lys
ENST00000688598.1:c.503G>A	ENSP00000510410.1:p.Arg168Lys
ENST00000691812.1:c.605G>A	ENSP00000510211.1:p.Arg202Lys
ENST00000693759.1:c.*217G>A	ENSP00000509518.1:n.*217G>A
ENST00000370803.8:c.605G>A MANE Select	ENSP00000359839.4:p.Arg202Lys
ENST00000332070.7:c.605G>A	ENSP00000329097.3:p.Arg202Lys
ENST00000370799.5:c.608G>A	ENSP00000359835.1:p.Arg203Lys
ENST00000370800.4:c.608G>A	ENSP00000359836.4:p.Arg203Lys
ENST00000370803.7:c.605G>A	ENSP00000359839.3:p.Arg202Lys
ENST00000625464.2:c.608G>A	ENSP00000487420.1:p.Arg203Lys
NM_001015877.1:c.605G>A , LRG_629t1:c.605G>A	NP_001015877.1:p.Arg202Lys
NM_032335.3:c.608G>A , LRG_629t2:c.608G>A	NP_115711.2:p.Arg203Lys
NM_032458.2:c.605G>A	NP_115834.1:p.Arg202Lys
NM_001015877.2:c.605G>A MANE Select	NP_001015877.1:p.Arg202Lys
NM_032458.3:c.605G>A	NP_115834.1:p.Arg202Lys