Canonical Allele Identifier: CA356895025

Gene: PDGFRA

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54285923G>C , CM000666.2:g.54285923G>C	GRCh38
NC_000004.11:g.55152090G>C , CM000666.1:g.55152090G>C	GRCh37
NC_000004.10:g.54846847G>C	NCBI36
NG_009250.1:g.61827G>C , LRG_309:g.61827G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.2522G>C MANE Select	ENSP00000257290.5:p.Arg841Thr
ENST00000257290.9:c.2522G>C	ENSP00000257290.5:p.Arg841Thr
ENST00000507166.5:c.1802G>C	ENSP00000423325.1:p.Arg601Thr
NM_006206.4:c.2522G>C , LRG_309t1:c.2522G>C	NP_006197.1:p.Arg841Thr
XM_005265743.1:c.2522G>C	XP_005265800.1:p.Arg841Thr
XM_006714039.2:c.2597G>C	XP_006714102.1:p.Arg866Thr
XM_011534385.1:c.2522G>C	XP_011532687.1:p.Arg841Thr
XM_011534386.1:c.2522G>C	XP_011532688.1:p.Arg841Thr
NM_001347828.1:c.2597G>C	NP_001334757.1:p.Arg866Thr
NM_001347829.1:c.2522G>C	NP_001334758.1:p.Arg841Thr
NM_001347830.1:c.2561G>C	NP_001334759.1:p.Arg854Thr
NM_006206.5:c.2522G>C	NP_006197.1:p.Arg841Thr
NM_006206.6:c.2522G>C MANE Select	NP_006197.1:p.Arg841Thr
NM_001347828.2:c.2597G>C	NP_001334757.1:p.Arg866Thr
NM_001347829.2:c.2522G>C	NP_001334758.1:p.Arg841Thr
NM_001347830.2:c.2561G>C	NP_001334759.1:p.Arg854Thr