Canonical Allele Identifier: CA941703591
Gene: PDGFD HGNC NCBI

Linked Data

dbSNP Id: rs1858505757
gnomAD v3: 11-103937380-G-C
gnomAD v4: 11-103937380-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103937380G>C , CM000673.2:g.103937380G>C GRCh38
NC_000011.9:g.103808108G>C , CM000673.1:g.103808108G>C GRCh37
NC_000011.8:g.103313318G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000393158.7:c.772+6072C>G MANE Select ENSP00000376865.2:n.772+6072C>G
ENST00000302251.9:c.754+6072C>G ENSP00000302193.5:n.754+6072C>G
ENST00000393158.6:c.772+6072C>G ENSP00000376865.2:n.772+6072C>G
NM_025208.4:c.772+6072C>G NP_079484.1:n.772+6072C>G
NM_033135.3:c.754+6072C>G NP_149126.1:n.754+6072C>G
NM_025208.5:c.772+6072C>G MANE Select NP_079484.1:n.772+6072C>G
NM_033135.4:c.754+6072C>G NP_149126.1:n.754+6072C>G
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