Canonical Allele Identifier: CA2459717488
Gene: PHF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134414006T= , CM000685.2:g.134414006T= GRCh38
NC_000023.10:g.133548036T= , CM000685.1:g.133548036T= GRCh37
NC_000023.9:g.133375702T= NCBI36
NG_008886.1:g.45695T= , LRG_629:g.45695T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000685553.1:c.*648+40T= ENSP00000510193.1:n.*648+40T=
ENST00000687496.1:c.627+40T= ENSP00000509551.1:n.627+40T=
ENST00000688598.1:c.627+40T= ENSP00000510410.1:n.627+40T=
ENST00000691812.1:c.729+40T= ENSP00000510211.1:n.729+40T=
ENST00000693759.1:c.*341+40T= ENSP00000509518.1:n.*341+40T=
ENST00000370803.8:c.729+40T= MANE Select ENSP00000359839.4:n.729+40T=
ENST00000332070.7:c.729+40T= ENSP00000329097.3:n.729+40T=
ENST00000370799.5:c.732+40T= ENSP00000359835.1:n.732+40T=
ENST00000370800.4:c.732+40T= ENSP00000359836.4:n.732+40T=
ENST00000370803.7:c.729+40T= ENSP00000359839.3:n.729+40T=
ENST00000625464.2:c.732+40T= ENSP00000487420.1:n.732+40T=
NM_001015877.1:c.729+40T= , LRG_629t1:c.729+40T= NP_001015877.1:n.729+40T=
NM_032335.3:c.732+40T= , LRG_629t2:c.732+40T= NP_115711.2:n.732+40T=
NM_032458.2:c.729+40T= NP_115834.1:n.729+40T=
NM_001015877.2:c.729+40T= MANE Select NP_001015877.1:n.729+40T=
NM_032458.3:c.729+40T= NP_115834.1:n.729+40T=