Canonical Allele Identifier: CA2716601298
Gene: PDGFRL HGNC NCBI

Linked Data

dbSNP Id: rs2129672266

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.17603856G>T , CM000670.2:g.17603856G>T GRCh38
NC_000008.10:g.17461365G>T , CM000670.1:g.17461365G>T GRCh37
NC_000008.9:g.17505642G>T NCBI36
NG_023332.1:g.32424G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251630.11:c.353+14091G>T MANE Select ENSP00000251630.4:n.353+14091G>T
ENST00000673645.1:c.353+14091G>T ENSP00000501219.1:n.353+14091G>T
ENST00000251630.10:c.353+14091G>T ENSP00000251630.4:n.353+14091G>T
ENST00000541323.1:c.353+14091G>T ENSP00000444211.1:n.353+14091G>T
NM_006207.2:c.353+14091G>T NP_006198.1:n.353+14091G>T
XM_011544558.1:c.353+14091G>T XP_011542860.1:n.353+14091G>T
NM_001372073.1:c.353+14091G>T MANE Select NP_001359002.1:n.353+14091G>T