Canonical Allele Identifier: CA1458536040
Gene: PDGFRA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54276051G>C , CM000666.2:g.54276051G>C GRCh38
NC_000004.11:g.55142218G>C , CM000666.1:g.55142218G>C GRCh37
NC_000004.10:g.54836975G>C NCBI36
NG_009250.1:g.51955G>C , LRG_309:g.51955G>C

Transcript Alleles

HGVS Amino-acid Change
NM_006206.6:c.1786+1078G>C MANE Select NP_006197.1:n.1786+1078G>C
ENST00000257290.10:c.1786+1078G>C MANE Select ENSP00000257290.5:n.1786+1078G>C
NM_001347827.1:c.1786+1078G>C NP_001334756.1:n.1786+1078G>C
NM_001347827.2:c.1786+1078G>C NP_001334756.1:n.1786+1078G>C
NM_001347828.1:c.1861+1078G>C NP_001334757.1:n.1861+1078G>C
NM_001347828.2:c.1861+1078G>C NP_001334757.1:n.1861+1078G>C
NM_001347829.1:c.1786+1078G>C NP_001334758.1:n.1786+1078G>C
NM_001347829.2:c.1786+1078G>C NP_001334758.1:n.1786+1078G>C
NM_001347830.1:c.1825+1078G>C NP_001334759.1:n.1825+1078G>C
NM_001347830.2:c.1825+1078G>C NP_001334759.1:n.1825+1078G>C
NM_006206.4:c.1786+1078G>C , LRG_309t1:c.1786+1078G>C NP_006197.1:n.1786+1078G>C
NM_006206.5:c.1786+1078G>C NP_006197.1:n.1786+1078G>C
ENST00000257290.9:c.1786+1078G>C ENSP00000257290.5:n.1786+1078G>C
ENST00000507166.5:c.1066+1078G>C ENSP00000423325.1:n.1066+1078G>C
ENST00000509092.5:n.1604+1078G>C
ENST00000509490.5:c.1786+1078G>C ENSP00000424218.1:n.1786+1078G>C
XM_005265743.1:c.1786+1078G>C XP_005265800.1:n.1786+1078G>C
XM_006714039.2:c.1861+1078G>C XP_006714102.1:n.1861+1078G>C
XM_006714041.2:c.1861+1078G>C XP_006714104.1:n.1861+1078G>C
XM_006714041.3:c.1861+1078G>C XP_006714104.1:n.1861+1078G>C
XM_011534385.1:c.1786+1078G>C XP_011532687.1:n.1786+1078G>C
XM_011534386.1:c.1786+1078G>C XP_011532688.1:n.1786+1078G>C
XM_017008281.1:c.1825+1078G>C XP_016863770.1:n.1825+1078G>C
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