Canonical Allele Identifier: CA9959250

Gene: PPDPF

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63521348C>A , CM000682.2:g.63521348C>A	GRCh38
NC_000020.10:g.62152701C>A , CM000682.1:g.62152701C>A	GRCh37
NC_000020.9:g.61623145C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370179.8:c.40C>A MANE Select	ENSP00000359198.3:p.His14Asn
ENST00000370177.1:c.40C>A	ENSP00000359196.1:p.His14Asn
ENST00000370179.7:c.40C>A	ENSP00000359198.3:p.His14Asn
ENST00000464438.1:n.195C>A
ENST00000473620.1:n.119-164C>A
NM_024299.2:c.40C>A	NP_077275.1:p.His14Asn
XM_011529042.1:c.803-164C>A	XP_011527344.1:n.803-164C>A
NM_001353423.1:c.40C>A	NP_001340352.1:p.His14Asn
NM_024299.3:c.40C>A	NP_077275.1:p.His14Asn
NR_148427.1:n.155-164C>A
NM_024299.4:c.40C>A MANE Select	NP_077275.1:p.His14Asn
NM_001353423.2:c.40C>A	NP_001340352.1:p.His14Asn