Canonical Allele Identifier: CA414707939

Gene: PHF6

Linked Data

• ClinVar Variation Id: 523390
• ClinVar RCV Id: RCV000626726
• dbSNP Id: rs1556019449
• MyVariant Identifiers: chrX:g.133551320G>C (hg19) ; chrX:g.134417290G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134417290G>C , CM000685.2:g.134417290G>C	GRCh38
NC_000023.10:g.133551320G>C , CM000685.1:g.133551320G>C	GRCh37
NC_000023.9:g.133378986G>C	NCBI36
NG_008886.1:g.48979G>C , LRG_629:g.48979G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*875G>C	ENSP00000510193.1:n.*875G>C
ENST00000687496.1:c.854G>C	ENSP00000509551.1:p.Arg285Pro
ENST00000688598.1:c.854G>C	ENSP00000510410.1:p.Arg285Pro
ENST00000691812.1:c.956G>C	ENSP00000510211.1:p.Arg319Pro
ENST00000693759.1:c.*568G>C	ENSP00000509518.1:n.*568G>C
ENST00000370803.8:c.956G>C MANE Select	ENSP00000359839.4:p.Arg319Pro
ENST00000332070.7:c.956G>C	ENSP00000329097.3:p.Arg319Pro
ENST00000370799.5:c.959G>C	ENSP00000359835.1:p.Arg320Pro
ENST00000370803.7:c.956G>C	ENSP00000359839.3:p.Arg319Pro
ENST00000625464.2:c.959G>C	ENSP00000487420.1:p.Arg320Pro
NM_001015877.1:c.956G>C , LRG_629t1:c.956G>C	NP_001015877.1:p.Arg319Pro
NM_032458.2:c.956G>C	NP_115834.1:p.Arg319Pro
NM_001015877.2:c.956G>C MANE Select	NP_001015877.1:p.Arg319Pro
NM_032458.3:c.956G>C	NP_115834.1:p.Arg319Pro