Canonical Allele Identifier: CA414712772

Gene: PHF6

Linked Data

• dbSNP Id: rs1248849132
• gnomAD v3: X-134413828-T-G
• gnomAD v4: X-134413828-T-G
• MyVariant Identifiers: chrX:g.133547858T>G (hg19) ; chrX:g.134413828T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413828T>G , CM000685.2:g.134413828T>G	GRCh38
NC_000023.10:g.133547858T>G , CM000685.1:g.133547858T>G	GRCh37
NC_000023.9:g.133375524T>G	NCBI36
NG_008886.1:g.45517T>G , LRG_629:g.45517T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*510T>G	ENSP00000510193.1:n.*510T>G
ENST00000687496.1:c.489T>G	ENSP00000509551.1:p.Asp163Glu
ENST00000688598.1:c.489T>G	ENSP00000510410.1:p.Asp163Glu
ENST00000691812.1:c.591T>G	ENSP00000510211.1:p.Asp197Glu
ENST00000693759.1:c.*203T>G	ENSP00000509518.1:n.*203T>G
ENST00000370803.8:c.591T>G MANE Select	ENSP00000359839.4:p.Asp197Glu
ENST00000332070.7:c.591T>G	ENSP00000329097.3:p.Asp197Glu
ENST00000370799.5:c.594T>G	ENSP00000359835.1:p.Asp198Glu
ENST00000370800.4:c.594T>G	ENSP00000359836.4:p.Asp198Glu
ENST00000370803.7:c.591T>G	ENSP00000359839.3:p.Asp197Glu
ENST00000625464.2:c.594T>G	ENSP00000487420.1:p.Asp198Glu
NM_001015877.1:c.591T>G , LRG_629t1:c.591T>G	NP_001015877.1:p.Asp197Glu
NM_032335.3:c.594T>G , LRG_629t2:c.594T>G	NP_115711.2:p.Asp198Glu
NM_032458.2:c.591T>G	NP_115834.1:p.Asp197Glu
NM_001015877.2:c.591T>G MANE Select	NP_001015877.1:p.Asp197Glu
NM_032458.3:c.591T>G	NP_115834.1:p.Asp197Glu