Canonical Allele Identifier: CA1137516222

Gene: PHF6

Linked Data

• dbSNP Id: rs2077462111
• gnomAD v3: X-134414030-G-A
• gnomAD v4: X-134414030-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134414030G>A , CM000685.2:g.134414030G>A	GRCh38
NC_000023.10:g.133548060G>A , CM000685.1:g.133548060G>A	GRCh37
NC_000023.9:g.133375726G>A	NCBI36
NG_008886.1:g.45719G>A , LRG_629:g.45719G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*648+64G>A	ENSP00000510193.1:n.*648+64G>A
ENST00000687496.1:c.627+64G>A	ENSP00000509551.1:n.627+64G>A
ENST00000688598.1:c.627+64G>A	ENSP00000510410.1:n.627+64G>A
ENST00000691812.1:c.729+64G>A	ENSP00000510211.1:n.729+64G>A
ENST00000693759.1:c.*341+64G>A	ENSP00000509518.1:n.*341+64G>A
ENST00000370803.8:c.729+64G>A MANE Select	ENSP00000359839.4:n.729+64G>A
ENST00000332070.7:c.729+64G>A	ENSP00000329097.3:n.729+64G>A
ENST00000370799.5:c.732+64G>A	ENSP00000359835.1:n.732+64G>A
ENST00000370800.4:c.732+64G>A	ENSP00000359836.4:n.732+64G>A
ENST00000370803.7:c.729+64G>A	ENSP00000359839.3:n.729+64G>A
ENST00000625464.2:c.732+64G>A	ENSP00000487420.1:n.732+64G>A
NM_001015877.1:c.729+64G>A , LRG_629t1:c.729+64G>A	NP_001015877.1:n.729+64G>A
NM_032335.3:c.732+64G>A , LRG_629t2:c.732+64G>A	NP_115711.2:n.732+64G>A
NM_032458.2:c.729+64G>A	NP_115834.1:n.729+64G>A
NM_001015877.2:c.729+64G>A MANE Select	NP_001015877.1:n.729+64G>A
NM_032458.3:c.729+64G>A	NP_115834.1:n.729+64G>A