Canonical Allele Identifier: CA356893209
Gene: PDGFRA HGNC NCBI

Linked Data

dbSNP Id: rs1435627268

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54274928C>A , CM000666.2:g.54274928C>A GRCh38
NC_000004.11:g.55141095C>A , CM000666.1:g.55141095C>A GRCh37
NC_000004.10:g.54835852C>A NCBI36
NG_009250.1:g.50832C>A , LRG_309:g.50832C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000257290.10:c.1741C>A MANE Select ENSP00000257290.5:p.Pro581Thr
ENST00000257290.9:c.1741C>A ENSP00000257290.5:p.Pro581Thr
ENST00000507166.5:c.1021C>A ENSP00000423325.1:p.Pro341Thr
ENST00000509092.5:n.1559C>A
ENST00000509490.5:c.1741C>A ENSP00000424218.1:p.Pro581Thr
NM_006206.4:c.1741C>A , LRG_309t1:c.1741C>A NP_006197.1:p.Pro581Thr
XM_005265743.1:c.1741C>A XP_005265800.1:p.Pro581Thr
XM_006714039.2:c.1816C>A XP_006714102.1:p.Pro606Thr
XM_006714041.2:c.1816C>A XP_006714104.1:p.Pro606Thr
XM_011534385.1:c.1741C>A XP_011532687.1:p.Pro581Thr
XM_011534386.1:c.1741C>A XP_011532688.1:p.Pro581Thr
NM_001347827.1:c.1741C>A NP_001334756.1:p.Pro581Thr
NM_001347828.1:c.1816C>A NP_001334757.1:p.Pro606Thr
NM_001347829.1:c.1741C>A NP_001334758.1:p.Pro581Thr
NM_001347830.1:c.1780C>A NP_001334759.1:p.Pro594Thr
NM_006206.5:c.1741C>A NP_006197.1:p.Pro581Thr
XM_006714041.3:c.1816C>A XP_006714104.1:p.Pro606Thr
XM_017008281.1:c.1780C>A XP_016863770.1:p.Pro594Thr
NM_006206.6:c.1741C>A MANE Select NP_006197.1:p.Pro581Thr
NM_001347827.2:c.1741C>A NP_001334756.1:p.Pro581Thr
NM_001347828.2:c.1816C>A NP_001334757.1:p.Pro606Thr
NM_001347829.2:c.1741C>A NP_001334758.1:p.Pro581Thr
NM_001347830.2:c.1780C>A NP_001334759.1:p.Pro594Thr