Canonical Allele Identifier: CA915943060

Gene: PDGFRA

Linked Data

• ClinVar Variation Id: 746268
• ClinVar RCV Id: RCV001459569
• dbSNP Id: rs1577742132
• gnomAD v4: 4-54285835-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54285835A>T , CM000666.2:g.54285835A>T	GRCh38
NC_000004.11:g.55152002A>T , CM000666.1:g.55152002A>T	GRCh37
NC_000004.10:g.54846759A>T	NCBI36
NG_009250.1:g.61739A>T , LRG_309:g.61739A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257290.10:c.2440-6A>T MANE Select	ENSP00000257290.5:n.2440-6A>T
ENST00000257290.9:c.2440-6A>T	ENSP00000257290.5:n.2440-6A>T
ENST00000507166.5:c.1720-6A>T	ENSP00000423325.1:n.1720-6A>T
NM_006206.4:c.2440-6A>T , LRG_309t1:c.2440-6A>T	NP_006197.1:n.2440-6A>T
XM_005265743.1:c.2440-6A>T	XP_005265800.1:n.2440-6A>T
XM_006714039.2:c.2515-6A>T	XP_006714102.1:n.2515-6A>T
XM_011534385.1:c.2440-6A>T	XP_011532687.1:n.2440-6A>T
XM_011534386.1:c.2440-6A>T	XP_011532688.1:n.2440-6A>T
NM_001347828.1:c.2515-6A>T	NP_001334757.1:n.2515-6A>T
NM_001347829.1:c.2440-6A>T	NP_001334758.1:n.2440-6A>T
NM_001347830.1:c.2479-6A>T	NP_001334759.1:n.2479-6A>T
NM_006206.5:c.2440-6A>T	NP_006197.1:n.2440-6A>T
NM_006206.6:c.2440-6A>T MANE Select	NP_006197.1:n.2440-6A>T
NM_001347828.2:c.2515-6A>T	NP_001334757.1:n.2515-6A>T
NM_001347829.2:c.2440-6A>T	NP_001334758.1:n.2440-6A>T
NM_001347830.2:c.2479-6A>T	NP_001334759.1:n.2479-6A>T