Canonical Allele Identifier: CA409659121
Gene: PPDPF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63521857C>G , CM000682.2:g.63521857C>G GRCh38
NC_000020.10:g.62153210C>G , CM000682.1:g.62153210C>G GRCh37
NC_000020.9:g.61623654C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000370179.8:c.323C>G MANE Select ENSP00000359198.3:p.Ala108Gly
ENST00000370177.1:c.401C>G ENSP00000359196.1:p.Ala134Gly
ENST00000370179.7:c.323C>G ENSP00000359198.3:p.Ala108Gly
ENST00000473620.1:n.386C>G
NM_024299.2:c.323C>G NP_077275.1:p.Ala108Gly
XM_011529042.1:c.1070C>G XP_011527344.1:p.Ala357Gly
NM_001353423.1:c.*61C>G NP_001340352.1:n.*61C>G
NM_024299.3:c.323C>G NP_077275.1:p.Ala108Gly
NR_148427.1:n.422C>G
NM_024299.4:c.323C>G MANE Select NP_077275.1:p.Ala108Gly
NM_001353423.2:c.*61C>G NP_001340352.1:n.*61C>G