Canonical Allele Identifier: CA849326770
Gene: PDGFRL HGNC NCBI

Linked Data

dbSNP Id: rs1438798601
gnomAD v3: 8-17603688-A-G
gnomAD v4: 8-17603688-A-G
MyVariant Identifiers: chr8:g.17461197A>G (hg19) chr8:g.17603688A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.17603688A>G , CM000670.2:g.17603688A>G GRCh38
NC_000008.10:g.17461197A>G , CM000670.1:g.17461197A>G GRCh37
NC_000008.9:g.17505474A>G NCBI36
NG_023332.1:g.32256A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251630.11:c.353+13923A>G MANE Select ENSP00000251630.4:n.353+13923A>G
ENST00000673645.1:c.353+13923A>G ENSP00000501219.1:n.353+13923A>G
ENST00000251630.10:c.353+13923A>G ENSP00000251630.4:n.353+13923A>G
ENST00000541323.1:c.353+13923A>G ENSP00000444211.1:n.353+13923A>G
NM_006207.2:c.353+13923A>G NP_006198.1:n.353+13923A>G
XM_011544558.1:c.353+13923A>G XP_011542860.1:n.353+13923A>G
NM_001372073.1:c.353+13923A>G MANE Select NP_001359002.1:n.353+13923A>G
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