Canonical Allele Identifier: CA172982730
Gene: PDGFRL HGNC NCBI

Linked Data

dbSNP Id: rs934139383
gnomAD v3: 8-17604109-T-A
gnomAD v4: 8-17604109-T-A
COSMIC: COSN4923262
MyVariant Identifiers: chr8:g.17461618T>A (hg19) chr8:g.17604109T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.17604109T>A , CM000670.2:g.17604109T>A GRCh38
NC_000008.10:g.17461618T>A , CM000670.1:g.17461618T>A GRCh37
NC_000008.9:g.17505895T>A NCBI36
NG_023332.1:g.32677T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251630.11:c.353+14344T>A MANE Select ENSP00000251630.4:n.353+14344T>A
ENST00000673645.1:c.353+14344T>A ENSP00000501219.1:n.353+14344T>A
ENST00000251630.10:c.353+14344T>A ENSP00000251630.4:n.353+14344T>A
ENST00000541323.1:c.353+14344T>A ENSP00000444211.1:n.353+14344T>A
NM_006207.2:c.353+14344T>A NP_006198.1:n.353+14344T>A
XM_011544558.1:c.353+14344T>A XP_011542860.1:n.353+14344T>A
NM_001372073.1:c.353+14344T>A MANE Select NP_001359002.1:n.353+14344T>A
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