Canonical Allele Identifier: CA414712909

Gene: PHF6

Linked Data

• gnomAD v4: X-134413886-G-T
• MyVariant Identifiers: chrX:g.133547916G>T (hg19) ; chrX:g.134413886G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413886G>T , CM000685.2:g.134413886G>T	GRCh38
NC_000023.10:g.133547916G>T , CM000685.1:g.133547916G>T	GRCh37
NC_000023.9:g.133375582G>T	NCBI36
NG_008886.1:g.45575G>T , LRG_629:g.45575G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*568G>T	ENSP00000510193.1:n.*568G>T
ENST00000687496.1:c.547G>T	ENSP00000509551.1:p.Val183Leu
ENST00000688598.1:c.547G>T	ENSP00000510410.1:p.Val183Leu
ENST00000691812.1:c.649G>T	ENSP00000510211.1:p.Val217Leu
ENST00000693759.1:c.*261G>T	ENSP00000509518.1:n.*261G>T
ENST00000370803.8:c.649G>T MANE Select	ENSP00000359839.4:p.Val217Leu
ENST00000332070.7:c.649G>T	ENSP00000329097.3:p.Val217Leu
ENST00000370799.5:c.652G>T	ENSP00000359835.1:p.Val218Leu
ENST00000370800.4:c.652G>T	ENSP00000359836.4:p.Val218Leu
ENST00000370803.7:c.649G>T	ENSP00000359839.3:p.Val217Leu
ENST00000625464.2:c.652G>T	ENSP00000487420.1:p.Val218Leu
NM_001015877.1:c.649G>T , LRG_629t1:c.649G>T	NP_001015877.1:p.Val217Leu
NM_032335.3:c.652G>T , LRG_629t2:c.652G>T	NP_115711.2:p.Val218Leu
NM_032458.2:c.649G>T	NP_115834.1:p.Val217Leu
NM_001015877.2:c.649G>T MANE Select	NP_001015877.1:p.Val217Leu
NM_032458.3:c.649G>T	NP_115834.1:p.Val217Leu