Canonical Allele Identifier: CA16621202
Gene: PHF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 421387
ClinVar RCV Id: RCV000481139
dbSNP Id: rs1064795103
MyVariant Identifiers: chrX:g.133551239G>A (hg19) chrX:g.134417209G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134417209G>A , CM000685.2:g.134417209G>A GRCh38
NC_000023.10:g.133551239G>A , CM000685.1:g.133551239G>A GRCh37
NC_000023.9:g.133378905G>A NCBI36
NG_008886.1:g.48898G>A , LRG_629:g.48898G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000685553.1:c.*794G>A ENSP00000510193.1:n.*794G>A
ENST00000687496.1:c.773G>A ENSP00000509551.1:p.Cys258Tyr
ENST00000688598.1:c.773G>A ENSP00000510410.1:p.Cys258Tyr
ENST00000691812.1:c.875G>A ENSP00000510211.1:p.Cys292Tyr
ENST00000693759.1:c.*487G>A ENSP00000509518.1:n.*487G>A
ENST00000370803.8:c.875G>A MANE Select ENSP00000359839.4:p.Cys292Tyr
ENST00000332070.7:c.875G>A ENSP00000329097.3:p.Cys292Tyr
ENST00000370799.5:c.878G>A ENSP00000359835.1:p.Cys293Tyr
ENST00000370803.7:c.875G>A ENSP00000359839.3:p.Cys292Tyr
ENST00000625464.2:c.878G>A ENSP00000487420.1:p.Cys293Tyr
NM_001015877.1:c.875G>A , LRG_629t1:c.875G>A NP_001015877.1:p.Cys292Tyr
NM_032458.2:c.875G>A NP_115834.1:p.Cys292Tyr
NM_001015877.2:c.875G>A MANE Select NP_001015877.1:p.Cys292Tyr
NM_032458.3:c.875G>A NP_115834.1:p.Cys292Tyr
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