Canonical Allele Identifier: CA1458530072

Gene: PDGFRA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54267590T= , CM000666.2:g.54267590T=	GRCh38
NC_000004.11:g.55133757T= , CM000666.1:g.55133757T=	GRCh37
NC_000004.10:g.54828514T=	NCBI36
NG_009250.1:g.43494T= , LRG_309:g.43494T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.970T= MANE Select	ENSP00000257290.5:p.Leu324=
ENST00000257290.9:c.970T=	ENSP00000257290.5:p.Leu324=
ENST00000507166.5:c.1018-7335T=	ENSP00000423325.1:n.1018-7335T=
ENST00000509092.5:n.788T=
ENST00000509490.5:c.970T=	ENSP00000424218.1:p.Leu324=
NM_006206.4:c.970T= , LRG_309t1:c.970T=	NP_006197.1:p.Leu324=
XM_005265743.1:c.970T=	XP_005265800.1:p.Leu324=
XM_006714039.2:c.1045T=	XP_006714102.1:p.Leu349=
XM_006714041.2:c.1045T=	XP_006714104.1:p.Leu349=
XM_011534385.1:c.970T=	XP_011532687.1:p.Leu324=
XM_011534386.1:c.970T=	XP_011532688.1:p.Leu324=
NM_001347827.1:c.970T=	NP_001334756.1:p.Leu324=
NM_001347828.1:c.1045T=	NP_001334757.1:p.Leu349=
NM_001347829.1:c.970T=	NP_001334758.1:p.Leu324=
NM_001347830.1:c.1009T=	NP_001334759.1:p.Leu337=
NM_006206.5:c.970T=	NP_006197.1:p.Leu324=
XM_006714041.3:c.1045T=	XP_006714104.1:p.Leu349=
XM_017008281.1:c.1009T=	XP_016863770.1:p.Leu337=
NM_006206.6:c.970T= MANE Select	NP_006197.1:p.Leu324=
NM_001347827.2:c.970T=	NP_001334756.1:p.Leu324=
NM_001347828.2:c.1045T=	NP_001334757.1:p.Leu349=
NM_001347829.2:c.970T=	NP_001334758.1:p.Leu324=
NM_001347830.2:c.1009T=	NP_001334759.1:p.Leu337=