Canonical Allele Identifier: CA601294181
Gene: PDGFD HGNC NCBI

Linked Data

dbSNP Id: rs1196705542
gnomAD v2: 11-103808057-G-A
gnomAD v3: 11-103937329-G-A
gnomAD v4: 11-103937329-G-A
MyVariant Identifiers: chr11:g.103808057G>A (hg19) chr11:g.103937329G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103937329G>A , CM000673.2:g.103937329G>A GRCh38
NC_000011.9:g.103808057G>A , CM000673.1:g.103808057G>A GRCh37
NC_000011.8:g.103313267G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000393158.7:c.772+6123C>T MANE Select ENSP00000376865.2:n.772+6123C>T
ENST00000302251.9:c.754+6123C>T ENSP00000302193.5:n.754+6123C>T
ENST00000393158.6:c.772+6123C>T ENSP00000376865.2:n.772+6123C>T
NM_025208.4:c.772+6123C>T NP_079484.1:n.772+6123C>T
NM_033135.3:c.754+6123C>T NP_149126.1:n.754+6123C>T
NM_025208.5:c.772+6123C>T MANE Select NP_079484.1:n.772+6123C>T
NM_033135.4:c.754+6123C>T NP_149126.1:n.754+6123C>T
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