Canonical Allele Identifier: CA129082537

Gene: PDGFRB

Linked Data

• dbSNP Id: rs991835031
• gnomAD v2: 5-149535367-A-T
• gnomAD v3: 5-150155804-A-T
• gnomAD v4: 5-150155804-A-T
• MyVariant Identifiers: chr5:g.149535367A>T (hg19) ; chr5:g.150155804A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150155804A>T , CM000667.2:g.150155804A>T	GRCh38
NC_000005.9:g.149535367A>T , CM000667.1:g.149535367A>T	GRCh37
NC_000005.8:g.149515560A>T	NCBI36
NG_023367.1:g.5056T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261799.9:c.-414T>A MANE Select	ENSP00000261799.4:n.-414T>A
ENST00000261799.8:c.-414T>A	ENSP00000261799.4:n.-414T>A
ENST00000517660.1:n.57T>A
ENST00000520579.5:c.-414T>A	ENSP00000430026.1:n.-414T>A
ENST00000523456.1:n.69T>A
NM_002609.3:c.-414T>A	NP_002600.1:n.-414T>A
XM_005268464.2:c.-560T>A	XP_005268521.1:n.-560T>A
XM_011537659.1:c.-881T>A	XP_011535961.1:n.-881T>A
NM_001355016.1:c.-560T>A	NP_001341945.1:n.-560T>A
NM_001355017.1:c.-931T>A	NP_001341946.1:n.-931T>A
NR_149150.1:n.56T>A
NM_002609.4:c.-414T>A MANE Select	NP_002600.1:n.-414T>A
NM_001355016.2:c.-560T>A	NP_001341945.1:n.-560T>A
NM_001355017.2:c.-931T>A	NP_001341946.1:n.-931T>A
NR_149150.2:n.42T>A