Canonical Allele Identifier: CA356895035
Gene: PDGFRA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54285928A>G , CM000666.2:g.54285928A>G GRCh38
NC_000004.11:g.55152095A>G , CM000666.1:g.55152095A>G GRCh37
NC_000004.10:g.54846852A>G NCBI36
NG_009250.1:g.61832A>G , LRG_309:g.61832A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000257290.10:c.2527A>G MANE Select ENSP00000257290.5:p.Ile843Val
ENST00000257290.9:c.2527A>G ENSP00000257290.5:p.Ile843Val
ENST00000507166.5:c.1807A>G ENSP00000423325.1:p.Ile603Val
NM_006206.4:c.2527A>G , LRG_309t1:c.2527A>G NP_006197.1:p.Ile843Val
XM_005265743.1:c.2527A>G XP_005265800.1:p.Ile843Val
XM_006714039.2:c.2602A>G XP_006714102.1:p.Ile868Val
XM_011534385.1:c.2527A>G XP_011532687.1:p.Ile843Val
XM_011534386.1:c.2527A>G XP_011532688.1:p.Ile843Val
NM_001347828.1:c.2602A>G NP_001334757.1:p.Ile868Val
NM_001347829.1:c.2527A>G NP_001334758.1:p.Ile843Val
NM_001347830.1:c.2566A>G NP_001334759.1:p.Ile856Val
NM_006206.5:c.2527A>G NP_006197.1:p.Ile843Val
NM_006206.6:c.2527A>G MANE Select NP_006197.1:p.Ile843Val
NM_001347828.2:c.2602A>G NP_001334757.1:p.Ile868Val
NM_001347829.2:c.2527A>G NP_001334758.1:p.Ile843Val
NM_001347830.2:c.2566A>G NP_001334759.1:p.Ile856Val