Canonical Allele Identifier: CA414712796

Gene: PHF6

Linked Data

• dbSNP Id: rs1179536222
• MyVariant Identifiers: chrX:g.133547869A>G (hg19) ; chrX:g.134413839A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413839A>G , CM000685.2:g.134413839A>G	GRCh38
NC_000023.10:g.133547869A>G , CM000685.1:g.133547869A>G	GRCh37
NC_000023.9:g.133375535A>G	NCBI36
NG_008886.1:g.45528A>G , LRG_629:g.45528A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000685553.1:c.*521A>G	ENSP00000510193.1:n.*521A>G
ENST00000687496.1:c.500A>G	ENSP00000509551.1:p.His167Arg
ENST00000688598.1:c.500A>G	ENSP00000510410.1:p.His167Arg
ENST00000691812.1:c.602A>G	ENSP00000510211.1:p.His201Arg
ENST00000693759.1:c.*214A>G	ENSP00000509518.1:n.*214A>G
ENST00000370803.8:c.602A>G MANE Select	ENSP00000359839.4:p.His201Arg
ENST00000332070.7:c.602A>G	ENSP00000329097.3:p.His201Arg
ENST00000370799.5:c.605A>G	ENSP00000359835.1:p.His202Arg
ENST00000370800.4:c.605A>G	ENSP00000359836.4:p.His202Arg
ENST00000370803.7:c.602A>G	ENSP00000359839.3:p.His201Arg
ENST00000625464.2:c.605A>G	ENSP00000487420.1:p.His202Arg
NM_001015877.1:c.602A>G , LRG_629t1:c.602A>G	NP_001015877.1:p.His201Arg
NM_032335.3:c.605A>G , LRG_629t2:c.605A>G	NP_115711.2:p.His202Arg
NM_032458.2:c.602A>G	NP_115834.1:p.His201Arg
NM_001015877.2:c.602A>G MANE Select	NP_001015877.1:p.His201Arg
NM_032458.3:c.602A>G	NP_115834.1:p.His201Arg