Canonical Allele Identifier: CA356895058
Gene: PDGFRA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54285938A>T , CM000666.2:g.54285938A>T GRCh38
NC_000004.11:g.55152105A>T , CM000666.1:g.55152105A>T GRCh37
NC_000004.10:g.54846862A>T NCBI36
NG_009250.1:g.61842A>T , LRG_309:g.61842A>T

Transcript Alleles

HGVS Amino-acid Change
NM_006206.6:c.2537A>T MANE Select NP_006197.1:p.Asp846Val
ENST00000257290.10:c.2537A>T MANE Select ENSP00000257290.5:p.Asp846Val
NM_001347828.1:c.2612A>T NP_001334757.1:p.Asp871Val
NM_001347828.2:c.2612A>T NP_001334757.1:p.Asp871Val
NM_001347829.1:c.2537A>T NP_001334758.1:p.Asp846Val
NM_001347829.2:c.2537A>T NP_001334758.1:p.Asp846Val
NM_001347830.1:c.2576A>T NP_001334759.1:p.Asp859Val
NM_001347830.2:c.2576A>T NP_001334759.1:p.Asp859Val
NM_006206.4:c.2537A>T , LRG_309t1:c.2537A>T NP_006197.1:p.Asp846Val
NM_006206.5:c.2537A>T NP_006197.1:p.Asp846Val
ENST00000257290.9:c.2537A>T ENSP00000257290.5:p.Asp846Val
ENST00000507166.5:c.1817A>T ENSP00000423325.1:p.Asp606Val
XM_005265743.1:c.2537A>T XP_005265800.1:p.Asp846Val
XM_006714039.2:c.2612A>T XP_006714102.1:p.Asp871Val
XM_011534385.1:c.2537A>T XP_011532687.1:p.Asp846Val
XM_011534386.1:c.2537A>T XP_011532688.1:p.Asp846Val