Canonical Allele Identifier: CA644561739

Gene: PHF6

Linked Data

• dbSNP Id: rs1283274815
• gnomAD v2: X-133548130-A-G
• gnomAD v3: X-134414100-A-G
• gnomAD v4: X-134414100-A-G
• MyVariant Identifiers: chrX:g.133548130A>G (hg19) ; chrX:g.134414100A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134414100A>G , CM000685.2:g.134414100A>G	GRCh38
NC_000023.10:g.133548130A>G , CM000685.1:g.133548130A>G	GRCh37
NC_000023.9:g.133375796A>G	NCBI36
NG_008886.1:g.45789A>G , LRG_629:g.45789A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*648+134A>G	ENSP00000510193.1:n.*648+134A>G
ENST00000687496.1:c.627+134A>G	ENSP00000509551.1:n.627+134A>G
ENST00000688598.1:c.627+134A>G	ENSP00000510410.1:n.627+134A>G
ENST00000691812.1:c.729+134A>G	ENSP00000510211.1:n.729+134A>G
ENST00000693759.1:c.*341+134A>G	ENSP00000509518.1:n.*341+134A>G
ENST00000370803.8:c.729+134A>G MANE Select	ENSP00000359839.4:n.729+134A>G
ENST00000332070.7:c.729+134A>G	ENSP00000329097.3:n.729+134A>G
ENST00000370799.5:c.732+134A>G	ENSP00000359835.1:n.732+134A>G
ENST00000370800.4:c.732+134A>G	ENSP00000359836.4:n.732+134A>G
ENST00000370803.7:c.729+134A>G	ENSP00000359839.3:n.729+134A>G
ENST00000625464.2:c.732+134A>G	ENSP00000487420.1:n.732+134A>G
NM_001015877.1:c.729+134A>G , LRG_629t1:c.729+134A>G	NP_001015877.1:n.729+134A>G
NM_032335.3:c.732+134A>G , LRG_629t2:c.732+134A>G	NP_115711.2:n.732+134A>G
NM_032458.2:c.729+134A>G	NP_115834.1:n.729+134A>G
NM_001015877.2:c.729+134A>G MANE Select	NP_001015877.1:n.729+134A>G
NM_032458.3:c.729+134A>G	NP_115834.1:n.729+134A>G