Canonical Allele Identifier: CA1767749867
Gene: PDGFRL HGNC NCBI

Linked Data

dbSNP Id: rs2517183

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.17603667T>G , CM000670.2:g.17603667T>G GRCh38
NC_000008.10:g.17461176T>G , CM000670.1:g.17461176T>G GRCh37
NG_023332.1:g.32235T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251630.11:c.353+13902T>G MANE Select ENSP00000251630.4:n.353+13902T>G
ENST00000673645.1:c.353+13902T>G ENSP00000501219.1:n.353+13902T>G
ENST00000251630.10:c.353+13902T>G ENSP00000251630.4:n.353+13902T>G
ENST00000541323.1:c.353+13902T>G ENSP00000444211.1:n.353+13902T>G
NM_006207.2:c.353+13902T>G NP_006198.1:n.353+13902T>G
XM_011544558.1:c.353+13902T>G XP_011542860.1:n.353+13902T>G
NM_001372073.1:c.353+13902T>G MANE Select NP_001359002.1:n.353+13902T>G