Canonical Allele Identifier: CA413250501
Gene: PHF8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54044882C>G , CM000685.2:g.54044882C>G GRCh38
NC_000023.10:g.54071315C>G , CM000685.1:g.54071315C>G GRCh37
NC_000023.9:g.54088040C>G NCBI36
NG_021309.1:g.5255G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357988.9:c.9G>C ENSP00000350676.5:p.Arg3Ser
ENST00000437224.5:c.-89G>C ENSP00000398995.1:n.-89G>C
ENST00000453905.5:c.9G>C ENSP00000405897.1:p.Arg3Ser
NM_001184896.1:c.9G>C NP_001171825.1:p.Arg3Ser
XM_005261996.1:c.9G>C XP_005262053.1:p.Arg3Ser
XM_005262000.1:c.9G>C XP_005262057.1:p.Arg3Ser
XM_006724585.1:c.9G>C XP_006724648.1:p.Arg3Ser
XM_011530778.1:c.9G>C XP_011529080.1:p.Arg3Ser