Canonical Allele Identifier: CA414713047

Gene: PHF6

Linked Data

• gnomAD v4: X-134413946-G-T
• MyVariant Identifiers: chrX:g.133547976G>T (hg19) ; chrX:g.134413946G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413946G>T , CM000685.2:g.134413946G>T	GRCh38
NC_000023.10:g.133547976G>T , CM000685.1:g.133547976G>T	GRCh37
NC_000023.9:g.133375642G>T	NCBI36
NG_008886.1:g.45635G>T , LRG_629:g.45635G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*628G>T	ENSP00000510193.1:n.*628G>T
ENST00000687496.1:c.607G>T	ENSP00000509551.1:p.Ala203Ser
ENST00000688598.1:c.607G>T	ENSP00000510410.1:p.Ala203Ser
ENST00000691812.1:c.709G>T	ENSP00000510211.1:p.Ala237Ser
ENST00000693759.1:c.*321G>T	ENSP00000509518.1:n.*321G>T
ENST00000370803.8:c.709G>T MANE Select	ENSP00000359839.4:p.Ala237Ser
ENST00000332070.7:c.709G>T	ENSP00000329097.3:p.Ala237Ser
ENST00000370799.5:c.712G>T	ENSP00000359835.1:p.Ala238Ser
ENST00000370800.4:c.712G>T	ENSP00000359836.4:p.Ala238Ser
ENST00000370803.7:c.709G>T	ENSP00000359839.3:p.Ala237Ser
ENST00000625464.2:c.712G>T	ENSP00000487420.1:p.Ala238Ser
NM_001015877.1:c.709G>T , LRG_629t1:c.709G>T	NP_001015877.1:p.Ala237Ser
NM_032335.3:c.712G>T , LRG_629t2:c.712G>T	NP_115711.2:p.Ala238Ser
NM_032458.2:c.709G>T	NP_115834.1:p.Ala237Ser
NM_001015877.2:c.709G>T MANE Select	NP_001015877.1:p.Ala237Ser
NM_032458.3:c.709G>T	NP_115834.1:p.Ala237Ser