Canonical Allele Identifier: CA356893106

Gene: PDGFRA

Linked Data

• ClinVar Variation Id: 2091950
• ClinVar RCV Id: RCV003015864
• gnomAD v4: 4-54274883-A-C
• MyVariant Identifiers: chr4:g.55141050A>C (hg19) ; chr4:g.54274883A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54274883A>C , CM000666.2:g.54274883A>C	GRCh38
NC_000004.11:g.55141050A>C , CM000666.1:g.55141050A>C	GRCh37
NC_000004.10:g.54835807A>C	NCBI36
NG_009250.1:g.50787A>C , LRG_309:g.50787A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.1696A>C MANE Select	ENSP00000257290.5:p.Ser566Arg
ENST00000257290.9:c.1696A>C	ENSP00000257290.5:p.Ser566Arg
ENST00000507166.5:c.1018-42A>C	ENSP00000423325.1:n.1018-42A>C
ENST00000509092.5:n.1514A>C
ENST00000509490.5:c.1696A>C	ENSP00000424218.1:p.Ser566Arg
NM_006206.4:c.1696A>C , LRG_309t1:c.1696A>C	NP_006197.1:p.Ser566Arg
XM_005265743.1:c.1696A>C	XP_005265800.1:p.Ser566Arg
XM_006714039.2:c.1771A>C	XP_006714102.1:p.Ser591Arg
XM_006714041.2:c.1771A>C	XP_006714104.1:p.Ser591Arg
XM_011534385.1:c.1696A>C	XP_011532687.1:p.Ser566Arg
XM_011534386.1:c.1696A>C	XP_011532688.1:p.Ser566Arg
NM_001347827.1:c.1696A>C	NP_001334756.1:p.Ser566Arg
NM_001347828.1:c.1771A>C	NP_001334757.1:p.Ser591Arg
NM_001347829.1:c.1696A>C	NP_001334758.1:p.Ser566Arg
NM_001347830.1:c.1735A>C	NP_001334759.1:p.Ser579Arg
NM_006206.5:c.1696A>C	NP_006197.1:p.Ser566Arg
XM_006714041.3:c.1771A>C	XP_006714104.1:p.Ser591Arg
XM_017008281.1:c.1735A>C	XP_016863770.1:p.Ser579Arg
NM_006206.6:c.1696A>C MANE Select	NP_006197.1:p.Ser566Arg
NM_001347827.2:c.1696A>C	NP_001334756.1:p.Ser566Arg
NM_001347828.2:c.1771A>C	NP_001334757.1:p.Ser591Arg
NM_001347829.2:c.1696A>C	NP_001334758.1:p.Ser566Arg
NM_001347830.2:c.1735A>C	NP_001334759.1:p.Ser579Arg