Canonical Allele Identifier: CA172982204
Gene: PDGFRL HGNC NCBI

Linked Data

dbSNP Id: rs1056789912
gnomAD v3: 8-17603629-C-A
gnomAD v4: 8-17603629-C-A
MyVariant Identifiers: chr8:g.17461138C>A (hg19) chr8:g.17603629C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.17603629C>A , CM000670.2:g.17603629C>A GRCh38
NC_000008.10:g.17461138C>A , CM000670.1:g.17461138C>A GRCh37
NC_000008.9:g.17505415C>A NCBI36
NG_023332.1:g.32197C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251630.11:c.353+13864C>A MANE Select ENSP00000251630.4:n.353+13864C>A
ENST00000673645.1:c.353+13864C>A ENSP00000501219.1:n.353+13864C>A
ENST00000251630.10:c.353+13864C>A ENSP00000251630.4:n.353+13864C>A
ENST00000541323.1:c.353+13864C>A ENSP00000444211.1:n.353+13864C>A
NM_006207.2:c.353+13864C>A NP_006198.1:n.353+13864C>A
XM_011544558.1:c.353+13864C>A XP_011542860.1:n.353+13864C>A
NM_001372073.1:c.353+13864C>A MANE Select NP_001359002.1:n.353+13864C>A
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