Canonical Allele Identifier: CA6256130

Gene: DDI1 PDGFD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.104037356C>T , CM000673.2:g.104037356C>T	GRCh38
NC_000011.9:g.103908084C>T , CM000673.1:g.103908084C>T	GRCh37
NC_000011.8:g.103413294C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001001711.3:c.534C>T (DDI1) MANE Select	NP_001001711.1:p.Thr178=
NM_025208.5:c.125-37101G>A (PDGFD) MANE Select	NP_079484.1:n.125-37101G>A
ENST00000302259.5:c.534C>T (DDI1) MANE Select	ENSP00000302805.3:p.Thr178=
ENST00000393158.7:c.125-37101G>A (PDGFD) MANE Select	ENSP00000376865.2:n.125-37101G>A
NM_001001711.2:c.534C>T (DDI1)	NP_001001711.1:p.Thr178=
NM_025208.4:c.125-37101G>A (PDGFD)	NP_079484.1:n.125-37101G>A
NM_033135.3:c.125-37119G>A (PDGFD)	NP_149126.1:n.125-37119G>A
NM_033135.4:c.125-37119G>A (PDGFD)	NP_149126.1:n.125-37119G>A
ENST00000302251.9:c.125-37119G>A (PDGFD)	ENSP00000302193.5:n.125-37119G>A
ENST00000302259.4:c.534C>T (DDI1)	ENSP00000302805.3:p.Thr178=
ENST00000393158.6:c.125-37101G>A (PDGFD)	ENSP00000376865.2:n.125-37101G>A