Canonical Allele Identifier: CA2675968640

Gene: PDGFRB

Linked Data

• gnomAD v4: 5-150155806-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150155806C>A , CM000667.2:g.150155806C>A	GRCh38
NC_000005.9:g.149535369C>A , CM000667.1:g.149535369C>A	GRCh37
NC_000005.8:g.149515562C>A	NCBI36
NG_023367.1:g.5054G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261799.9:c.-416G>T MANE Select	ENSP00000261799.4:n.-416G>T
ENST00000261799.8:c.-416G>T	ENSP00000261799.4:n.-416G>T
ENST00000517660.1:n.55G>T
ENST00000520579.5:c.-416G>T	ENSP00000430026.1:n.-416G>T
ENST00000523456.1:n.67G>T
NM_002609.3:c.-416G>T	NP_002600.1:n.-416G>T
XM_005268464.2:c.-562G>T	XP_005268521.1:n.-562G>T
XM_011537659.1:c.-883G>T	XP_011535961.1:n.-883G>T
NM_001355016.1:c.-562G>T	NP_001341945.1:n.-562G>T
NM_001355017.1:c.-933G>T	NP_001341946.1:n.-933G>T
NR_149150.1:n.54G>T
NM_002609.4:c.-416G>T MANE Select	NP_002600.1:n.-416G>T
NM_001355016.2:c.-562G>T	NP_001341945.1:n.-562G>T
NM_001355017.2:c.-933G>T	NP_001341946.1:n.-933G>T
NR_149150.2:n.40G>T