Canonical Allele Identifier: CA172982718
Gene: PDGFRL HGNC NCBI

Linked Data

dbSNP Id: rs1028048829
gnomAD v3: 8-17604103-G-C
gnomAD v4: 8-17604103-G-C
MyVariant Identifiers: chr8:g.17461612G>C (hg19) chr8:g.17604103G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.17604103G>C , CM000670.2:g.17604103G>C GRCh38
NC_000008.10:g.17461612G>C , CM000670.1:g.17461612G>C GRCh37
NC_000008.9:g.17505889G>C NCBI36
NG_023332.1:g.32671G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251630.11:c.353+14338G>C MANE Select ENSP00000251630.4:n.353+14338G>C
ENST00000673645.1:c.353+14338G>C ENSP00000501219.1:n.353+14338G>C
ENST00000251630.10:c.353+14338G>C ENSP00000251630.4:n.353+14338G>C
ENST00000541323.1:c.353+14338G>C ENSP00000444211.1:n.353+14338G>C
NM_006207.2:c.353+14338G>C NP_006198.1:n.353+14338G>C
XM_011544558.1:c.353+14338G>C XP_011542860.1:n.353+14338G>C
NM_001372073.1:c.353+14338G>C MANE Select NP_001359002.1:n.353+14338G>C
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