Canonical Allele Identifier: CA2578450780

Gene: PDGFRB

Linked Data

• gnomAD v4: 5-150120827-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150120827A>G , CM000667.2:g.150120827A>G	GRCh38
NC_000005.9:g.149500390A>G , CM000667.1:g.149500390A>G	GRCh37
NC_000005.8:g.149480583A>G	NCBI36
NG_023367.1:g.40033T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261799.9:c.2586+61T>C MANE Select	ENSP00000261799.4:n.2586+61T>C
ENST00000261799.8:c.2586+61T>C	ENSP00000261799.4:n.2586+61T>C
ENST00000519575.5:n.500+61T>C
ENST00000520579.5:c.*1900+61T>C	ENSP00000430026.1:n.*1900+61T>C
NM_002609.3:c.2586+61T>C	NP_002600.1:n.2586+61T>C
XM_005268464.2:c.2394+61T>C	XP_005268521.1:n.2394+61T>C
XM_011537658.1:c.2586+61T>C	XP_011535960.1:n.2586+61T>C
XM_011537659.1:c.2586+61T>C	XP_011535961.1:n.2586+61T>C
XM_011537660.1:c.2586+61T>C	XP_011535962.1:n.2586+61T>C
NM_001355016.1:c.2394+61T>C	NP_001341945.1:n.2394+61T>C
NM_001355017.1:c.2103+61T>C	NP_001341946.1:n.2103+61T>C
NM_002609.4:c.2586+61T>C MANE Select	NP_002600.1:n.2586+61T>C
NM_001355016.2:c.2394+61T>C	NP_001341945.1:n.2394+61T>C
NM_001355017.2:c.2103+61T>C	NP_001341946.1:n.2103+61T>C