Canonical Allele Identifier: CA941703509
Gene: PDGFD HGNC NCBI

Linked Data

dbSNP Id: rs1858504241
gnomAD v3: 11-103937274-C-T
gnomAD v4: 11-103937274-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103937274C>T , CM000673.2:g.103937274C>T GRCh38
NC_000011.9:g.103808002C>T , CM000673.1:g.103808002C>T GRCh37
NC_000011.8:g.103313212C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000393158.7:c.772+6178G>A MANE Select ENSP00000376865.2:n.772+6178G>A
ENST00000302251.9:c.754+6178G>A ENSP00000302193.5:n.754+6178G>A
ENST00000393158.6:c.772+6178G>A ENSP00000376865.2:n.772+6178G>A
NM_025208.4:c.772+6178G>A NP_079484.1:n.772+6178G>A
NM_033135.3:c.754+6178G>A NP_149126.1:n.754+6178G>A
NM_025208.5:c.772+6178G>A MANE Select NP_079484.1:n.772+6178G>A
NM_033135.4:c.754+6178G>A NP_149126.1:n.754+6178G>A
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