Canonical Allele Identifier: CA518651318

Gene: PHF6

Linked Data

• MyVariant Identifiers: chrX:g.133547978T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413948T>G , CM000685.2:g.134413948T>G	GRCh38
NC_000023.10:g.133547978T>G , CM000685.1:g.133547978T>G	GRCh37
NC_000023.9:g.133375644T>G	NCBI36
NG_008886.1:g.45637T>G , LRG_629:g.45637T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*630T>G	ENSP00000510193.1:n.*630T>G
ENST00000687496.1:c.609T>G	ENSP00000509551.1:p.Ala203=
ENST00000688598.1:c.609T>G	ENSP00000510410.1:p.Ala203=
ENST00000691812.1:c.711T>G	ENSP00000510211.1:p.Ala237=
ENST00000693759.1:c.*323T>G	ENSP00000509518.1:n.*323T>G
ENST00000370803.8:c.711T>G MANE Select	ENSP00000359839.4:p.Ala237=
ENST00000332070.7:c.711T>G	ENSP00000329097.3:p.Ala237=
ENST00000370799.5:c.714T>G	ENSP00000359835.1:p.Ala238=
ENST00000370800.4:c.714T>G	ENSP00000359836.4:p.Ala238=
ENST00000370803.7:c.711T>G	ENSP00000359839.3:p.Ala237=
ENST00000625464.2:c.714T>G	ENSP00000487420.1:p.Ala238=
NM_001015877.1:c.711T>G , LRG_629t1:c.711T>G	NP_001015877.1:p.Ala237=
NM_032335.3:c.714T>G , LRG_629t2:c.714T>G	NP_115711.2:p.Ala238=
NM_032458.2:c.711T>G	NP_115834.1:p.Ala237=
NM_001015877.2:c.711T>G MANE Select	NP_001015877.1:p.Ala237=
NM_032458.3:c.711T>G	NP_115834.1:p.Ala237=