ClinGen Allele Registry
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Canonical Allele Identifier:
CA413250501
Gene: PHF8
HGNC
NCBI
JSON-LD
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
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