Canonical Allele Identifier: CA439287846
Gene: PDGFRA HGNC NCBI

Linked Data

dbSNP Id: rs1724335886
MyVariant Identifiers: chr4:g.55152094C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54285927C>T , CM000666.2:g.54285927C>T GRCh38
NC_000004.11:g.55152094C>T , CM000666.1:g.55152094C>T GRCh37
NC_000004.10:g.54846851C>T NCBI36
NG_009250.1:g.61831C>T , LRG_309:g.61831C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000257290.10:c.2526C>T MANE Select ENSP00000257290.5:p.Asp842=
ENST00000257290.9:c.2526C>T ENSP00000257290.5:p.Asp842=
ENST00000507166.5:c.1806C>T ENSP00000423325.1:p.Asp602=
NM_006206.4:c.2526C>T , LRG_309t1:c.2526C>T NP_006197.1:p.Asp842=
XM_005265743.1:c.2526C>T XP_005265800.1:p.Asp842=
XM_006714039.2:c.2601C>T XP_006714102.1:p.Asp867=
XM_011534385.1:c.2526C>T XP_011532687.1:p.Asp842=
XM_011534386.1:c.2526C>T XP_011532688.1:p.Asp842=
NM_001347828.1:c.2601C>T NP_001334757.1:p.Asp867=
NM_001347829.1:c.2526C>T NP_001334758.1:p.Asp842=
NM_001347830.1:c.2565C>T NP_001334759.1:p.Asp855=
NM_006206.5:c.2526C>T NP_006197.1:p.Asp842=
NM_006206.6:c.2526C>T MANE Select NP_006197.1:p.Asp842=
NM_001347828.2:c.2601C>T NP_001334757.1:p.Asp867=
NM_001347829.2:c.2526C>T NP_001334758.1:p.Asp842=
NM_001347830.2:c.2565C>T NP_001334759.1:p.Asp855=