Canonical Allele Identifier: CA123215
Community Standard Title: NM_006206.6(PDGFRA):c.2021C>T (p.Thr674Ile)
Gene: PDGFRA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54278380C>T , CM000666.2:g.54278380C>T GRCh38
NC_000004.11:g.55144547C>T , CM000666.1:g.55144547C>T GRCh37
NC_000004.10:g.54839304C>T NCBI36
NG_009250.1:g.54284C>T , LRG_309:g.54284C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006206.6:c.2021C>T MANE Select NP_006197.1:p.Thr674Ile
ENST00000257290.10:c.2021C>T MANE Select ENSP00000257290.5:p.Thr674Ile
NM_001347827.1:c.2021C>T NP_001334756.1:p.Thr674Ile
NM_001347827.2:c.2021C>T NP_001334756.1:p.Thr674Ile
NM_001347828.1:c.2096C>T NP_001334757.1:p.Thr699Ile
NM_001347828.2:c.2096C>T NP_001334757.1:p.Thr699Ile
NM_001347829.1:c.2021C>T NP_001334758.1:p.Thr674Ile
NM_001347829.2:c.2021C>T NP_001334758.1:p.Thr674Ile
NM_001347830.1:c.2060C>T NP_001334759.1:p.Thr687Ile
NM_001347830.2:c.2060C>T NP_001334759.1:p.Thr687Ile
NM_006206.4:c.2021C>T , LRG_309t1:c.2021C>T NP_006197.1:p.Thr674Ile
NM_006206.5:c.2021C>T NP_006197.1:p.Thr674Ile
ENST00000257290.9:c.2021C>T ENSP00000257290.5:p.Thr674Ile
ENST00000507166.5:c.1301C>T ENSP00000423325.1:p.Thr434Ile
ENST00000507536.1:n.447C>T
ENST00000509092.5:n.1839C>T
ENST00000509490.5:c.2021C>T ENSP00000424218.1:p.Thr674Ile
XM_005265743.1:c.2021C>T XP_005265800.1:p.Thr674Ile
XM_006714039.2:c.2096C>T XP_006714102.1:p.Thr699Ile
XM_006714041.2:c.2096C>T XP_006714104.1:p.Thr699Ile
XM_006714041.3:c.2096C>T XP_006714104.1:p.Thr699Ile
XM_011534385.1:c.2021C>T XP_011532687.1:p.Thr674Ile
XM_011534386.1:c.2021C>T XP_011532688.1:p.Thr674Ile
XM_017008281.1:c.2060C>T XP_016863770.1:p.Thr687Ile