Canonical Allele Identifier: CA518651038
Gene: PHF6 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.133547873A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134413843A>G , CM000685.2:g.134413843A>G GRCh38
NC_000023.10:g.133547873A>G , CM000685.1:g.133547873A>G GRCh37
NC_000023.9:g.133375539A>G NCBI36
NG_008886.1:g.45532A>G , LRG_629:g.45532A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000685553.1:c.*525A>G ENSP00000510193.1:n.*525A>G
ENST00000687496.1:c.504A>G ENSP00000509551.1:p.Arg168=
ENST00000688598.1:c.504A>G ENSP00000510410.1:p.Arg168=
ENST00000691812.1:c.606A>G ENSP00000510211.1:p.Arg202=
ENST00000693759.1:c.*218A>G ENSP00000509518.1:n.*218A>G
ENST00000370803.8:c.606A>G MANE Select ENSP00000359839.4:p.Arg202=
ENST00000332070.7:c.606A>G ENSP00000329097.3:p.Arg202=
ENST00000370799.5:c.609A>G ENSP00000359835.1:p.Arg203=
ENST00000370800.4:c.609A>G ENSP00000359836.4:p.Arg203=
ENST00000370803.7:c.606A>G ENSP00000359839.3:p.Arg202=
ENST00000625464.2:c.609A>G ENSP00000487420.1:p.Arg203=
NM_001015877.1:c.606A>G , LRG_629t1:c.606A>G NP_001015877.1:p.Arg202=
NM_032335.3:c.609A>G , LRG_629t2:c.609A>G NP_115711.2:p.Arg203=
NM_032458.2:c.606A>G NP_115834.1:p.Arg202=
NM_001015877.2:c.606A>G MANE Select NP_001015877.1:p.Arg202=
NM_032458.3:c.606A>G NP_115834.1:p.Arg202=