Canonical Allele Identifier: CA551368704

Gene: PDGFRA

Linked Data

• dbSNP Id: rs1180839208
• gnomAD v2: 4-55140960-C-T
• gnomAD v4: 4-54274793-C-T
• MyVariant Identifiers: chr4:g.55140960C>T (hg19) ; chr4:g.54274793C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54274793C>T , CM000666.2:g.54274793C>T	GRCh38
NC_000004.11:g.55140960C>T , CM000666.1:g.55140960C>T	GRCh37
NC_000004.10:g.54835717C>T	NCBI36
NG_009250.1:g.50697C>T , LRG_309:g.50697C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257290.10:c.1654-48C>T MANE Select	ENSP00000257290.5:n.1654-48C>T
ENST00000257290.9:c.1654-48C>T	ENSP00000257290.5:n.1654-48C>T
ENST00000507166.5:c.1018-132C>T	ENSP00000423325.1:n.1018-132C>T
ENST00000509092.5:n.1472-48C>T
ENST00000509490.5:c.1654-48C>T	ENSP00000424218.1:n.1654-48C>T
NM_006206.4:c.1654-48C>T , LRG_309t1:c.1654-48C>T	NP_006197.1:n.1654-48C>T
XM_005265743.1:c.1654-48C>T	XP_005265800.1:n.1654-48C>T
XM_006714039.2:c.1729-48C>T	XP_006714102.1:n.1729-48C>T
XM_006714041.2:c.1729-48C>T	XP_006714104.1:n.1729-48C>T
XM_011534385.1:c.1654-48C>T	XP_011532687.1:n.1654-48C>T
XM_011534386.1:c.1654-48C>T	XP_011532688.1:n.1654-48C>T
NM_001347827.1:c.1654-48C>T	NP_001334756.1:n.1654-48C>T
NM_001347828.1:c.1729-48C>T	NP_001334757.1:n.1729-48C>T
NM_001347829.1:c.1654-48C>T	NP_001334758.1:n.1654-48C>T
NM_001347830.1:c.1693-48C>T	NP_001334759.1:n.1693-48C>T
NM_006206.5:c.1654-48C>T	NP_006197.1:n.1654-48C>T
XM_006714041.3:c.1729-48C>T	XP_006714104.1:n.1729-48C>T
XM_017008281.1:c.1693-48C>T	XP_016863770.1:n.1693-48C>T
NM_006206.6:c.1654-48C>T MANE Select	NP_006197.1:n.1654-48C>T
NM_001347827.2:c.1654-48C>T	NP_001334756.1:n.1654-48C>T
NM_001347828.2:c.1729-48C>T	NP_001334757.1:n.1729-48C>T
NM_001347829.2:c.1654-48C>T	NP_001334758.1:n.1654-48C>T
NM_001347830.2:c.1693-48C>T	NP_001334759.1:n.1693-48C>T