Canonical Allele Identifier: CA1458535592
Gene: PDGFRA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54274912G= , CM000666.2:g.54274912G= GRCh38
NC_000004.11:g.55141079G= , CM000666.1:g.55141079G= GRCh37
NC_000004.10:g.54835836G= NCBI36
NG_009250.1:g.50816G= , LRG_309:g.50816G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000257290.10:c.1725G= MANE Select ENSP00000257290.5:p.Val575=
ENST00000257290.9:c.1725G= ENSP00000257290.5:p.Val575=
ENST00000507166.5:c.1018-13G= ENSP00000423325.1:n.1018-13G=
ENST00000509092.5:n.1543G=
ENST00000509490.5:c.1725G= ENSP00000424218.1:p.Val575=
NM_006206.4:c.1725G= , LRG_309t1:c.1725G= NP_006197.1:p.Val575=
XM_005265743.1:c.1725G= XP_005265800.1:p.Val575=
XM_006714039.2:c.1800G= XP_006714102.1:p.Val600=
XM_006714041.2:c.1800G= XP_006714104.1:p.Val600=
XM_011534385.1:c.1725G= XP_011532687.1:p.Val575=
XM_011534386.1:c.1725G= XP_011532688.1:p.Val575=
NM_001347827.1:c.1725G= NP_001334756.1:p.Val575=
NM_001347828.1:c.1800G= NP_001334757.1:p.Val600=
NM_001347829.1:c.1725G= NP_001334758.1:p.Val575=
NM_001347830.1:c.1764G= NP_001334759.1:p.Val588=
NM_006206.5:c.1725G= NP_006197.1:p.Val575=
XM_006714041.3:c.1800G= XP_006714104.1:p.Val600=
XM_017008281.1:c.1764G= XP_016863770.1:p.Val588=
NM_006206.6:c.1725G= MANE Select NP_006197.1:p.Val575=
NM_001347827.2:c.1725G= NP_001334756.1:p.Val575=
NM_001347828.2:c.1800G= NP_001334757.1:p.Val600=
NM_001347829.2:c.1725G= NP_001334758.1:p.Val575=
NM_001347830.2:c.1764G= NP_001334759.1:p.Val588=