Canonical Allele Identifier: CA644578105

Gene: PHF6

Linked Data

• dbSNP Id: rs1279888971
• gnomAD v2: X-133549030-C-T
• gnomAD v4: X-134415000-C-T
• MyVariant Identifiers: chrX:g.133549030C>T (hg19) ; chrX:g.134415000C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134415000C>T , CM000685.2:g.134415000C>T	GRCh38
NC_000023.10:g.133549030C>T , CM000685.1:g.133549030C>T	GRCh37
NC_000023.9:g.133376696C>T	NCBI36
NG_008886.1:g.46689C>T , LRG_629:g.46689C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*649-16C>T	ENSP00000510193.1:n.*649-16C>T
ENST00000687496.1:c.628-16C>T	ENSP00000509551.1:n.628-16C>T
ENST00000688598.1:c.628-16C>T	ENSP00000510410.1:n.628-16C>T
ENST00000691812.1:c.730-16C>T	ENSP00000510211.1:n.730-16C>T
ENST00000693759.1:c.*342-16C>T	ENSP00000509518.1:n.*342-16C>T
ENST00000370803.8:c.730-16C>T MANE Select	ENSP00000359839.4:n.730-16C>T
ENST00000332070.7:c.730-16C>T	ENSP00000329097.3:n.730-16C>T
ENST00000370799.5:c.733-16C>T	ENSP00000359835.1:n.733-16C>T
ENST00000370800.4:c.733-16C>T	ENSP00000359836.4:n.733-16C>T
ENST00000370803.7:c.730-16C>T	ENSP00000359839.3:n.730-16C>T
ENST00000625464.2:c.733-16C>T	ENSP00000487420.1:n.733-16C>T
NM_001015877.1:c.730-16C>T , LRG_629t1:c.730-16C>T	NP_001015877.1:n.730-16C>T
NM_032335.3:c.733-16C>T , LRG_629t2:c.733-16C>T	NP_115711.2:n.733-16C>T
NM_032458.2:c.730-16C>T	NP_115834.1:n.730-16C>T
NM_001015877.2:c.730-16C>T MANE Select	NP_001015877.1:n.730-16C>T
NM_032458.3:c.730-16C>T	NP_115834.1:n.730-16C>T