Canonical Allele Identifier: CA411603151

Gene: PDGFB

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.39235867G>T , CM000684.2:g.39235867G>T	GRCh38
NC_000022.10:g.39631872G>T , CM000684.1:g.39631872G>T	GRCh37
NC_000022.9:g.37961818G>T	NCBI36
NG_012111.1:g.14086C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002608.4:c.71C>A MANE Select	NP_002599.1:p.Pro24His
ENST00000331163.11:c.71C>A MANE Select	ENSP00000330382.6:p.Pro24His
NM_002608.2:c.71C>A	NP_002599.1:p.Pro24His
NM_002608.3:c.71C>A	NP_002599.1:p.Pro24His
NM_033016.2:c.26C>A	NP_148937.1:p.Pro9His
NM_033016.3:c.26C>A	NP_148937.1:p.Pro9His
ENST00000331163.10:c.71C>A	ENSP00000330382.6:p.Pro24His
ENST00000381551.8:c.26C>A	ENSP00000370963.4:p.Pro9His
ENST00000440375.1:c.-23C>A	ENSP00000405780.1:n.-23C>A
ENST00000455790.5:c.-23C>A	ENSP00000402306.1:n.-23C>A