Canonical Allele Identifier: CA227642638
Gene: PDGFD HGNC NCBI

Linked Data

dbSNP Id: rs537862583
gnomAD v2: 11-103808062-A-G
gnomAD v3: 11-103937334-A-G
gnomAD v4: 11-103937334-A-G
MyVariant Identifiers: chr11:g.103808062A>G (hg19) chr11:g.103937334A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103937334A>G , CM000673.2:g.103937334A>G GRCh38
NC_000011.9:g.103808062A>G , CM000673.1:g.103808062A>G GRCh37
NC_000011.8:g.103313272A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000393158.7:c.772+6118T>C MANE Select ENSP00000376865.2:n.772+6118T>C
ENST00000302251.9:c.754+6118T>C ENSP00000302193.5:n.754+6118T>C
ENST00000393158.6:c.772+6118T>C ENSP00000376865.2:n.772+6118T>C
NM_025208.4:c.772+6118T>C NP_079484.1:n.772+6118T>C
NM_033135.3:c.754+6118T>C NP_149126.1:n.754+6118T>C
NM_025208.5:c.772+6118T>C MANE Select NP_079484.1:n.772+6118T>C
NM_033135.4:c.754+6118T>C NP_149126.1:n.754+6118T>C
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