Canonical Allele Identifier: CA172982345
Gene: PDGFRL HGNC NCBI

Linked Data

dbSNP Id: rs147556018
gnomAD v2: 8-17461269-T-A
gnomAD v3: 8-17603760-T-A
gnomAD v4: 8-17603760-T-A
MyVariant Identifiers: chr8:g.17461269T>A (hg19) chr8:g.17603760T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.17603760T>A , CM000670.2:g.17603760T>A GRCh38
NC_000008.10:g.17461269T>A , CM000670.1:g.17461269T>A GRCh37
NC_000008.9:g.17505546T>A NCBI36
NG_023332.1:g.32328T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251630.11:c.353+13995T>A MANE Select ENSP00000251630.4:n.353+13995T>A
ENST00000673645.1:c.353+13995T>A ENSP00000501219.1:n.353+13995T>A
ENST00000251630.10:c.353+13995T>A ENSP00000251630.4:n.353+13995T>A
ENST00000541323.1:c.353+13995T>A ENSP00000444211.1:n.353+13995T>A
NM_006207.2:c.353+13995T>A NP_006198.1:n.353+13995T>A
XM_011544558.1:c.353+13995T>A XP_011542860.1:n.353+13995T>A
NM_001372073.1:c.353+13995T>A MANE Select NP_001359002.1:n.353+13995T>A
Search 100 bp 5'
Search 100 bp 3'