Canonical Allele Identifier: CA10617836
Gene: PDGFRA HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54297081G>C , CM000666.2:g.54297081G>C GRCh38
NC_000004.11:g.55163248G>C , CM000666.1:g.55163248G>C GRCh37
NC_000004.10:g.54858005G>C NCBI36
NG_009250.1:g.72985G>C , LRG_309:g.72985G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000257290.10:c.*1809G>C MANE Select ENSP00000257290.5:n.*1809G>C
ENST00000257290.9:c.*1809G>C ENSP00000257290.5:n.*1809G>C
NM_006206.4:c.*1809G>C , LRG_309t1:c.*1809G>C NP_006197.1:n.*1809G>C
XM_005265743.1:c.*1809G>C XP_005265800.1:n.*1809G>C
XM_006714039.2:c.*1809G>C XP_006714102.1:n.*1809G>C
XM_011534385.1:c.*1809G>C XP_011532687.1:n.*1809G>C
XM_011534386.1:c.*1809G>C XP_011532688.1:n.*1809G>C
NM_001347828.1:c.*1809G>C NP_001334757.1:n.*1809G>C
NM_001347829.1:c.*1809G>C NP_001334758.1:n.*1809G>C
NM_001347830.1:c.*1809G>C NP_001334759.1:n.*1809G>C
NM_006206.5:c.*1809G>C NP_006197.1:n.*1809G>C
NM_006206.6:c.*1809G>C MANE Select NP_006197.1:n.*1809G>C
NM_001347828.2:c.*1809G>C NP_001334757.1:n.*1809G>C
NM_001347829.2:c.*1809G>C NP_001334758.1:n.*1809G>C
NM_001347830.2:c.*1809G>C NP_001334759.1:n.*1809G>C