Canonical Allele Identifier: CA2922561
Gene: PDGFRA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54273594G>A , CM000666.2:g.54273594G>A GRCh38
NC_000004.11:g.55139761G>A , CM000666.1:g.55139761G>A GRCh37
NC_000004.10:g.54834518G>A NCBI36
NG_009250.1:g.49498G>A , LRG_309:g.49498G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000257290.10:c.1422G>A MANE Select ENSP00000257290.5:p.Thr474=
ENST00000257290.9:c.1422G>A ENSP00000257290.5:p.Thr474=
ENST00000507166.5:c.1018-1331G>A ENSP00000423325.1:n.1018-1331G>A
ENST00000509092.5:n.1240G>A
ENST00000509490.5:c.1422G>A ENSP00000424218.1:p.Thr474=
NM_006206.4:c.1422G>A , LRG_309t1:c.1422G>A NP_006197.1:p.Thr474=
XM_005265743.1:c.1422G>A XP_005265800.1:p.Thr474=
XM_006714039.2:c.1497G>A XP_006714102.1:p.Thr499=
XM_006714041.2:c.1497G>A XP_006714104.1:p.Thr499=
XM_011534385.1:c.1422G>A XP_011532687.1:p.Thr474=
XM_011534386.1:c.1422G>A XP_011532688.1:p.Thr474=
NM_001347827.1:c.1422G>A NP_001334756.1:p.Thr474=
NM_001347828.1:c.1497G>A NP_001334757.1:p.Thr499=
NM_001347829.1:c.1422G>A NP_001334758.1:p.Thr474=
NM_001347830.1:c.1461G>A NP_001334759.1:p.Thr487=
NM_006206.5:c.1422G>A NP_006197.1:p.Thr474=
XM_006714041.3:c.1497G>A XP_006714104.1:p.Thr499=
XM_017008281.1:c.1461G>A XP_016863770.1:p.Thr487=
NM_006206.6:c.1422G>A MANE Select NP_006197.1:p.Thr474=
NM_001347827.2:c.1422G>A NP_001334756.1:p.Thr474=
NM_001347828.2:c.1497G>A NP_001334757.1:p.Thr499=
NM_001347829.2:c.1422G>A NP_001334758.1:p.Thr474=
NM_001347830.2:c.1461G>A NP_001334759.1:p.Thr487=