Canonical Allele Identifier: CA361714884

Gene: PDGFRB

Linked Data

• gnomAD v4: 5-150129870-A-G
• MyVariant Identifiers: chr5:g.149509433A>G (hg19) ; chr5:g.150129870A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150129870A>G , CM000667.2:g.150129870A>G	GRCh38
NC_000005.9:g.149509433A>G , CM000667.1:g.149509433A>G	GRCh37
NC_000005.8:g.149489626A>G	NCBI36
NG_023367.1:g.30990T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261799.9:c.1466T>C MANE Select	ENSP00000261799.4:p.Phe489Ser
ENST00000261799.8:c.1466T>C	ENSP00000261799.4:p.Phe489Ser
ENST00000520579.5:c.*780T>C	ENSP00000430026.1:n.*780T>C
NM_002609.3:c.1466T>C	NP_002600.1:p.Phe489Ser
XM_005268464.2:c.1274T>C	XP_005268521.1:p.Phe425Ser
XM_011537658.1:c.1466T>C	XP_011535960.1:p.Phe489Ser
XM_011537659.1:c.1466T>C	XP_011535961.1:p.Phe489Ser
XM_011537660.1:c.1466T>C	XP_011535962.1:p.Phe489Ser
NM_001355016.1:c.1274T>C	NP_001341945.1:p.Phe425Ser
NM_001355017.1:c.983T>C	NP_001341946.1:p.Phe328Ser
NM_002609.4:c.1466T>C MANE Select	NP_002600.1:p.Phe489Ser
NM_001355016.2:c.1274T>C	NP_001341945.1:p.Phe425Ser
NM_001355017.2:c.983T>C	NP_001341946.1:p.Phe328Ser