Canonical Allele Identifier: CA1996762789
Gene: PDGFD HGNC NCBI

Linked Data

dbSNP Id: rs1591084276
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103937461A>G , CM000673.2:g.103937461A>G GRCh38
NC_000011.9:g.103808189A>G , CM000673.1:g.103808189A>G GRCh37
NC_000011.8:g.103313399A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000393158.7:c.772+5991T>C MANE Select ENSP00000376865.2:n.772+5991T>C
ENST00000302251.9:c.754+5991T>C ENSP00000302193.5:n.754+5991T>C
ENST00000393158.6:c.772+5991T>C ENSP00000376865.2:n.772+5991T>C
NM_025208.4:c.772+5991T>C NP_079484.1:n.772+5991T>C
NM_033135.3:c.754+5991T>C NP_149126.1:n.754+5991T>C
NM_025208.5:c.772+5991T>C MANE Select NP_079484.1:n.772+5991T>C
NM_033135.4:c.754+5991T>C NP_149126.1:n.754+5991T>C
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