Canonical Allele Identifier: CA439286735

Gene: PDGFRA

Linked Data

• ClinVar Variation Id: 528701
• ClinVar RCV Id: RCV000633923 ; RCV002431877
• dbSNP Id: rs1553903333
• MyVariant Identifiers: chr4:g.55133795T>C (hg19) ; chr4:g.54267628T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54267628T>C , CM000666.2:g.54267628T>C	GRCh38
NC_000004.11:g.55133795T>C , CM000666.1:g.55133795T>C	GRCh37
NC_000004.10:g.54828552T>C	NCBI36
NG_009250.1:g.43532T>C , LRG_309:g.43532T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.1008T>C MANE Select	ENSP00000257290.5:p.Val336=
ENST00000257290.9:c.1008T>C	ENSP00000257290.5:p.Val336=
ENST00000507166.5:c.1018-7297T>C	ENSP00000423325.1:n.1018-7297T>C
ENST00000509092.5:n.826T>C
ENST00000509490.5:c.1008T>C	ENSP00000424218.1:p.Val336=
NM_006206.4:c.1008T>C , LRG_309t1:c.1008T>C	NP_006197.1:p.Val336=
XM_005265743.1:c.1008T>C	XP_005265800.1:p.Val336=
XM_006714039.2:c.1083T>C	XP_006714102.1:p.Val361=
XM_006714041.2:c.1083T>C	XP_006714104.1:p.Val361=
XM_011534385.1:c.1008T>C	XP_011532687.1:p.Val336=
XM_011534386.1:c.1008T>C	XP_011532688.1:p.Val336=
NM_001347827.1:c.1008T>C	NP_001334756.1:p.Val336=
NM_001347828.1:c.1083T>C	NP_001334757.1:p.Val361=
NM_001347829.1:c.1008T>C	NP_001334758.1:p.Val336=
NM_001347830.1:c.1047T>C	NP_001334759.1:p.Val349=
NM_006206.5:c.1008T>C	NP_006197.1:p.Val336=
XM_006714041.3:c.1083T>C	XP_006714104.1:p.Val361=
XM_017008281.1:c.1047T>C	XP_016863770.1:p.Val349=
NM_006206.6:c.1008T>C MANE Select	NP_006197.1:p.Val336=
NM_001347827.2:c.1008T>C	NP_001334756.1:p.Val336=
NM_001347828.2:c.1083T>C	NP_001334757.1:p.Val361=
NM_001347829.2:c.1008T>C	NP_001334758.1:p.Val336=
NM_001347830.2:c.1047T>C	NP_001334759.1:p.Val349=