Canonical Allele Identifier: CA129082518

Gene: PDGFRB

Linked Data

• dbSNP Id: rs752650657
• gnomAD v4: 5-150155792-G-A
• MyVariant Identifiers: chr5:g.149535355G>A (hg19) ; chr5:g.150155792G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150155792G>A , CM000667.2:g.150155792G>A	GRCh38
NC_000005.9:g.149535355G>A , CM000667.1:g.149535355G>A	GRCh37
NC_000005.8:g.149515548G>A	NCBI36
NG_023367.1:g.5068C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261799.9:c.-402C>T MANE Select	ENSP00000261799.4:n.-402C>T
ENST00000261799.8:c.-402C>T	ENSP00000261799.4:n.-402C>T
ENST00000517660.1:n.69C>T
ENST00000520579.5:c.-402C>T	ENSP00000430026.1:n.-402C>T
ENST00000523456.1:n.81C>T
NM_002609.3:c.-402C>T	NP_002600.1:n.-402C>T
XM_005268464.2:c.-548C>T	XP_005268521.1:n.-548C>T
XM_011537659.1:c.-869C>T	XP_011535961.1:n.-869C>T
NM_001355016.1:c.-548C>T	NP_001341945.1:n.-548C>T
NM_001355017.1:c.-919C>T	NP_001341946.1:n.-919C>T
NR_149150.1:n.68C>T
NM_002609.4:c.-402C>T MANE Select	NP_002600.1:n.-402C>T
NM_001355016.2:c.-548C>T	NP_001341945.1:n.-548C>T
NM_001355017.2:c.-919C>T	NP_001341946.1:n.-919C>T
NR_149150.2:n.54C>T