Canonical Allele Identifier: CA356891608

Gene: PDGFRA

Linked Data

• ClinVar Variation Id: 2084185
• ClinVar RCV Id: RCV002994577
• MyVariant Identifiers: chr4:g.55133799G>A (hg19) ; chr4:g.54267632G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54267632G>A , CM000666.2:g.54267632G>A	GRCh38
NC_000004.11:g.55133799G>A , CM000666.1:g.55133799G>A	GRCh37
NC_000004.10:g.54828556G>A	NCBI36
NG_009250.1:g.43536G>A , LRG_309:g.43536G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.1012G>A MANE Select	ENSP00000257290.5:p.Glu338Lys
ENST00000257290.9:c.1012G>A	ENSP00000257290.5:p.Glu338Lys
ENST00000507166.5:c.1018-7293G>A	ENSP00000423325.1:n.1018-7293G>A
ENST00000509092.5:n.830G>A
ENST00000509490.5:c.1012G>A	ENSP00000424218.1:p.Glu338Lys
NM_006206.4:c.1012G>A , LRG_309t1:c.1012G>A	NP_006197.1:p.Glu338Lys
XM_005265743.1:c.1012G>A	XP_005265800.1:p.Glu338Lys
XM_006714039.2:c.1087G>A	XP_006714102.1:p.Glu363Lys
XM_006714041.2:c.1087G>A	XP_006714104.1:p.Glu363Lys
XM_011534385.1:c.1012G>A	XP_011532687.1:p.Glu338Lys
XM_011534386.1:c.1012G>A	XP_011532688.1:p.Glu338Lys
NM_001347827.1:c.1012G>A	NP_001334756.1:p.Glu338Lys
NM_001347828.1:c.1087G>A	NP_001334757.1:p.Glu363Lys
NM_001347829.1:c.1012G>A	NP_001334758.1:p.Glu338Lys
NM_001347830.1:c.1051G>A	NP_001334759.1:p.Glu351Lys
NM_006206.5:c.1012G>A	NP_006197.1:p.Glu338Lys
XM_006714041.3:c.1087G>A	XP_006714104.1:p.Glu363Lys
XM_017008281.1:c.1051G>A	XP_016863770.1:p.Glu351Lys
NM_006206.6:c.1012G>A MANE Select	NP_006197.1:p.Glu338Lys
NM_001347827.2:c.1012G>A	NP_001334756.1:p.Glu338Lys
NM_001347828.2:c.1087G>A	NP_001334757.1:p.Glu363Lys
NM_001347829.2:c.1012G>A	NP_001334758.1:p.Glu338Lys
NM_001347830.2:c.1051G>A	NP_001334759.1:p.Glu351Lys