Canonical Allele Identifier: CA10521128

Gene: PHF6

Linked Data

• dbSNP Id: rs745579251
• ExAC: X:133511600 A / G
• gnomAD v2: X-133511600-A-G
• gnomAD v4: X-134377570-A-G
• MyVariant Identifiers: chrX:g.133511600A>G (hg19) ; chrX:g.134377570A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134377570A>G , CM000685.2:g.134377570A>G	GRCh38
NC_000023.10:g.133511600A>G , CM000685.1:g.133511600A>G	GRCh37
NC_000023.9:g.133339266A>G	NCBI36
NG_008886.1:g.9259A>G , LRG_629:g.9259A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685047.1:c.-46-2A>G	ENSP00000509894.1:n.-46-2A>G
ENST00000685553.1:c.-46-2A>G	ENSP00000510193.1:n.-46-2A>G
ENST00000687496.1:c.-46-2A>G	ENSP00000509551.1:n.-46-2A>G
ENST00000687834.1:n.128-2A>G
ENST00000688598.1:c.-46-2A>G	ENSP00000510410.1:n.-46-2A>G
ENST00000691812.1:c.-46-2A>G	ENSP00000510211.1:n.-46-2A>G
ENST00000693759.1:c.-46-2A>G	ENSP00000509518.1:n.-46-2A>G
ENST00000370803.8:c.-46-2A>G MANE Select	ENSP00000359839.4:n.-46-2A>G
ENST00000332070.7:c.-46-2A>G	ENSP00000329097.3:n.-46-2A>G
ENST00000370799.5:c.-46-2A>G	ENSP00000359835.1:n.-46-2A>G
ENST00000370800.4:c.-46-2A>G	ENSP00000359836.4:n.-46-2A>G
ENST00000370803.7:c.-46-2A>G	ENSP00000359839.3:n.-46-2A>G
ENST00000625464.2:c.-46-2A>G	ENSP00000487420.1:n.-46-2A>G
NM_001015877.1:c.-46-2A>G , LRG_629t1:c.-46-2A>G	NP_001015877.1:n.-46-2A>G
NM_032335.3:c.-46-2A>G , LRG_629t2:c.-46-2A>G	NP_115711.2:n.-46-2A>G
NM_032458.2:c.-46-2A>G	NP_115834.1:n.-46-2A>G
NM_001015877.2:c.-46-2A>G MANE Select	NP_001015877.1:n.-46-2A>G
NM_032458.3:c.-46-2A>G	NP_115834.1:n.-46-2A>G