Canonical Allele Identifier: CA356891524

Gene: PDGFRA

Linked Data

• dbSNP Id: rs2110266602
• MyVariant Identifiers: chr4:g.55133760G>C (hg19) ; chr4:g.54267593G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54267593G>C , CM000666.2:g.54267593G>C	GRCh38
NC_000004.11:g.55133760G>C , CM000666.1:g.55133760G>C	GRCh37
NC_000004.10:g.54828517G>C	NCBI36
NG_009250.1:g.43497G>C , LRG_309:g.43497G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.973G>C MANE Select	ENSP00000257290.5:p.Glu325Gln
ENST00000257290.9:c.973G>C	ENSP00000257290.5:p.Glu325Gln
ENST00000507166.5:c.1018-7332G>C	ENSP00000423325.1:n.1018-7332G>C
ENST00000509092.5:n.791G>C
ENST00000509490.5:c.973G>C	ENSP00000424218.1:p.Glu325Gln
NM_006206.4:c.973G>C , LRG_309t1:c.973G>C	NP_006197.1:p.Glu325Gln
XM_005265743.1:c.973G>C	XP_005265800.1:p.Glu325Gln
XM_006714039.2:c.1048G>C	XP_006714102.1:p.Glu350Gln
XM_006714041.2:c.1048G>C	XP_006714104.1:p.Glu350Gln
XM_011534385.1:c.973G>C	XP_011532687.1:p.Glu325Gln
XM_011534386.1:c.973G>C	XP_011532688.1:p.Glu325Gln
NM_001347827.1:c.973G>C	NP_001334756.1:p.Glu325Gln
NM_001347828.1:c.1048G>C	NP_001334757.1:p.Glu350Gln
NM_001347829.1:c.973G>C	NP_001334758.1:p.Glu325Gln
NM_001347830.1:c.1012G>C	NP_001334759.1:p.Glu338Gln
NM_006206.5:c.973G>C	NP_006197.1:p.Glu325Gln
XM_006714041.3:c.1048G>C	XP_006714104.1:p.Glu350Gln
XM_017008281.1:c.1012G>C	XP_016863770.1:p.Glu338Gln
NM_006206.6:c.973G>C MANE Select	NP_006197.1:p.Glu325Gln
NM_001347827.2:c.973G>C	NP_001334756.1:p.Glu325Gln
NM_001347828.2:c.1048G>C	NP_001334757.1:p.Glu350Gln
NM_001347829.2:c.973G>C	NP_001334758.1:p.Glu325Gln
NM_001347830.2:c.1012G>C	NP_001334759.1:p.Glu338Gln