Canonical Allele Identifier: CA129100964

Gene: PDGFRB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150123056C>A , CM000667.2:g.150123056C>A	GRCh38
NC_000005.9:g.149502619C>A , CM000667.1:g.149502619C>A	GRCh37
NC_000005.8:g.149482812C>A	NCBI36
NG_023367.1:g.37804G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002609.4:c.2169G>T MANE Select	NP_002600.1:p.Gly723=
ENST00000261799.9:c.2169G>T MANE Select	ENSP00000261799.4:p.Gly723=
NM_001355016.1:c.1977G>T	NP_001341945.1:p.Gly659=
NM_001355016.2:c.1977G>T	NP_001341945.1:p.Gly659=
NM_001355017.1:c.1686G>T	NP_001341946.1:p.Gly562=
NM_001355017.2:c.1686G>T	NP_001341946.1:p.Gly562=
NM_002609.3:c.2169G>T	NP_002600.1:p.Gly723=
ENST00000261799.8:c.2169G>T	ENSP00000261799.4:p.Gly723=
ENST00000520579.5:c.*1483G>T	ENSP00000430026.1:n.*1483G>T
XM_005268464.2:c.1977G>T	XP_005268521.1:p.Gly659=
XM_011537658.1:c.2169G>T	XP_011535960.1:p.Gly723=
XM_011537659.1:c.2169G>T	XP_011535961.1:p.Gly723=
XM_011537660.1:c.2169G>T	XP_011535962.1:p.Gly723=