Canonical Allele Identifier: CA161432

Gene: PDGFRA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54261212G>C , CM000666.2:g.54261212G>C	GRCh38
NC_000004.11:g.55127379G>C , CM000666.1:g.55127379G>C	GRCh37
NC_000004.10:g.54822136G>C	NCBI36
NG_009250.1:g.37116G>C , LRG_309:g.37116G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006206.6:c.167G>C MANE Select	NP_006197.1:p.Ser56Thr
ENST00000257290.10:c.167G>C MANE Select	ENSP00000257290.5:p.Ser56Thr
NM_001347827.1:c.167G>C	NP_001334756.1:p.Ser56Thr
NM_001347827.2:c.167G>C	NP_001334756.1:p.Ser56Thr
NM_001347828.1:c.242G>C	NP_001334757.1:p.Ser81Thr
NM_001347828.2:c.242G>C	NP_001334757.1:p.Ser81Thr
NM_001347829.1:c.167G>C	NP_001334758.1:p.Ser56Thr
NM_001347829.2:c.167G>C	NP_001334758.1:p.Ser56Thr
NM_001347830.1:c.206G>C	NP_001334759.1:p.Ser69Thr
NM_001347830.2:c.206G>C	NP_001334759.1:p.Ser69Thr
NM_006206.4:c.167G>C , LRG_309t1:c.167G>C	NP_006197.1:p.Ser56Thr
NM_006206.5:c.167G>C	NP_006197.1:p.Ser56Thr
ENST00000257290.9:c.167G>C	ENSP00000257290.5:p.Ser56Thr
ENST00000503856.5:c.167G>C	ENSP00000425902.1:p.Ser56Thr
ENST00000504461.5:c.167G>C	ENSP00000426472.1:p.Ser56Thr
ENST00000507166.5:c.1018-13713G>C	ENSP00000423325.1:n.1018-13713G>C
ENST00000508170.5:c.167G>C	ENSP00000425648.1:p.Ser56Thr
ENST00000509092.5:n.185+2395G>C
ENST00000509490.5:c.167G>C	ENSP00000424218.1:p.Ser56Thr
ENST00000512143.1:c.242G>C	ENSP00000425626.1:p.Ser81Thr
ENST00000512522.1:c.167G>C	ENSP00000425232.1:p.Ser56Thr
XM_005265743.1:c.167G>C	XP_005265800.1:p.Ser56Thr
XM_006714039.2:c.242G>C	XP_006714102.1:p.Ser81Thr
XM_006714041.2:c.242G>C	XP_006714104.1:p.Ser81Thr
XM_006714041.3:c.242G>C	XP_006714104.1:p.Ser81Thr
XM_011534385.1:c.167G>C	XP_011532687.1:p.Ser56Thr
XM_011534386.1:c.167G>C	XP_011532688.1:p.Ser56Thr
XM_017008281.1:c.206G>C	XP_016863770.1:p.Ser69Thr