Canonical Allele Identifier: CA439286762
Gene: PDGFRA HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.55133831C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54267664C>A , CM000666.2:g.54267664C>A GRCh38
NC_000004.11:g.55133831C>A , CM000666.1:g.55133831C>A GRCh37
NC_000004.10:g.54828588C>A NCBI36
NG_009250.1:g.43568C>A , LRG_309:g.43568C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000257290.10:c.1044C>A MANE Select ENSP00000257290.5:p.Ser348=
ENST00000257290.9:c.1044C>A ENSP00000257290.5:p.Ser348=
ENST00000507166.5:c.1018-7261C>A ENSP00000423325.1:n.1018-7261C>A
ENST00000509092.5:n.862C>A
ENST00000509490.5:c.1044C>A ENSP00000424218.1:p.Ser348=
NM_006206.4:c.1044C>A , LRG_309t1:c.1044C>A NP_006197.1:p.Ser348=
XM_005265743.1:c.1044C>A XP_005265800.1:p.Ser348=
XM_006714039.2:c.1119C>A XP_006714102.1:p.Ser373=
XM_006714041.2:c.1119C>A XP_006714104.1:p.Ser373=
XM_011534385.1:c.1044C>A XP_011532687.1:p.Ser348=
XM_011534386.1:c.1044C>A XP_011532688.1:p.Ser348=
NM_001347827.1:c.1044C>A NP_001334756.1:p.Ser348=
NM_001347828.1:c.1119C>A NP_001334757.1:p.Ser373=
NM_001347829.1:c.1044C>A NP_001334758.1:p.Ser348=
NM_001347830.1:c.1083C>A NP_001334759.1:p.Ser361=
NM_006206.5:c.1044C>A NP_006197.1:p.Ser348=
XM_006714041.3:c.1119C>A XP_006714104.1:p.Ser373=
XM_017008281.1:c.1083C>A XP_016863770.1:p.Ser361=
NM_006206.6:c.1044C>A MANE Select NP_006197.1:p.Ser348=
NM_001347827.2:c.1044C>A NP_001334756.1:p.Ser348=
NM_001347828.2:c.1119C>A NP_001334757.1:p.Ser373=
NM_001347829.2:c.1044C>A NP_001334758.1:p.Ser348=
NM_001347830.2:c.1083C>A NP_001334759.1:p.Ser361=