Canonical Allele Identifier: CA356891510
Gene: PDGFRA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54267586C>G , CM000666.2:g.54267586C>G GRCh38
NC_000004.11:g.55133753C>G , CM000666.1:g.55133753C>G GRCh37
NC_000004.10:g.54828510C>G NCBI36
NG_009250.1:g.43490C>G , LRG_309:g.43490C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000257290.10:c.966C>G MANE Select ENSP00000257290.5:p.Ser322Arg
ENST00000257290.9:c.966C>G ENSP00000257290.5:p.Ser322Arg
ENST00000507166.5:c.1018-7339C>G ENSP00000423325.1:n.1018-7339C>G
ENST00000509092.5:n.784C>G
ENST00000509490.5:c.966C>G ENSP00000424218.1:p.Ser322Arg
NM_006206.4:c.966C>G , LRG_309t1:c.966C>G NP_006197.1:p.Ser322Arg
XM_005265743.1:c.966C>G XP_005265800.1:p.Ser322Arg
XM_006714039.2:c.1041C>G XP_006714102.1:p.Ser347Arg
XM_006714041.2:c.1041C>G XP_006714104.1:p.Ser347Arg
XM_011534385.1:c.966C>G XP_011532687.1:p.Ser322Arg
XM_011534386.1:c.966C>G XP_011532688.1:p.Ser322Arg
NM_001347827.1:c.966C>G NP_001334756.1:p.Ser322Arg
NM_001347828.1:c.1041C>G NP_001334757.1:p.Ser347Arg
NM_001347829.1:c.966C>G NP_001334758.1:p.Ser322Arg
NM_001347830.1:c.1005C>G NP_001334759.1:p.Ser335Arg
NM_006206.5:c.966C>G NP_006197.1:p.Ser322Arg
XM_006714041.3:c.1041C>G XP_006714104.1:p.Ser347Arg
XM_017008281.1:c.1005C>G XP_016863770.1:p.Ser335Arg
NM_006206.6:c.966C>G MANE Select NP_006197.1:p.Ser322Arg
NM_001347827.2:c.966C>G NP_001334756.1:p.Ser322Arg
NM_001347828.2:c.1041C>G NP_001334757.1:p.Ser347Arg
NM_001347829.2:c.966C>G NP_001334758.1:p.Ser322Arg
NM_001347830.2:c.1005C>G NP_001334759.1:p.Ser335Arg