Canonical Allele Identifier: CA227642649
Gene: PDGFD HGNC NCBI

Linked Data

dbSNP Id: rs1002653448

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103937470G>T , CM000673.2:g.103937470G>T GRCh38
NC_000011.9:g.103808198G>T , CM000673.1:g.103808198G>T GRCh37
NC_000011.8:g.103313408G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000393158.7:c.772+5982C>A MANE Select ENSP00000376865.2:n.772+5982C>A
ENST00000302251.9:c.754+5982C>A ENSP00000302193.5:n.754+5982C>A
ENST00000393158.6:c.772+5982C>A ENSP00000376865.2:n.772+5982C>A
NM_025208.4:c.772+5982C>A NP_079484.1:n.772+5982C>A
NM_033135.3:c.754+5982C>A NP_149126.1:n.754+5982C>A
NM_025208.5:c.772+5982C>A MANE Select NP_079484.1:n.772+5982C>A
NM_033135.4:c.754+5982C>A NP_149126.1:n.754+5982C>A