Canonical Allele Identifier: CA551651550

Gene: PDGFRA

Linked Data

• dbSNP Id: rs1184483799
• gnomAD v2: 4-55133712-T-C
• gnomAD v3: 4-54267545-T-C
• gnomAD v4: 4-54267545-T-C
• MyVariant Identifiers: chr4:g.55133712T>C (hg19) ; chr4:g.54267545T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54267545T>C , CM000666.2:g.54267545T>C	GRCh38
NC_000004.11:g.55133712T>C , CM000666.1:g.55133712T>C	GRCh37
NC_000004.10:g.54828469T>C	NCBI36
NG_009250.1:g.43449T>C , LRG_309:g.43449T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.932-7T>C MANE Select	ENSP00000257290.5:n.932-7T>C
ENST00000257290.9:c.932-7T>C	ENSP00000257290.5:n.932-7T>C
ENST00000507166.5:c.1018-7380T>C	ENSP00000423325.1:n.1018-7380T>C
ENST00000509092.5:n.750-7T>C
ENST00000509490.5:c.932-7T>C	ENSP00000424218.1:n.932-7T>C
NM_006206.4:c.932-7T>C , LRG_309t1:c.932-7T>C	NP_006197.1:n.932-7T>C
XM_005265743.1:c.932-7T>C	XP_005265800.1:n.932-7T>C
XM_006714039.2:c.1007-7T>C	XP_006714102.1:n.1007-7T>C
XM_006714041.2:c.1007-7T>C	XP_006714104.1:n.1007-7T>C
XM_011534385.1:c.932-7T>C	XP_011532687.1:n.932-7T>C
XM_011534386.1:c.932-7T>C	XP_011532688.1:n.932-7T>C
NM_001347827.1:c.932-7T>C	NP_001334756.1:n.932-7T>C
NM_001347828.1:c.1007-7T>C	NP_001334757.1:n.1007-7T>C
NM_001347829.1:c.932-7T>C	NP_001334758.1:n.932-7T>C
NM_001347830.1:c.971-7T>C	NP_001334759.1:n.971-7T>C
NM_006206.5:c.932-7T>C	NP_006197.1:n.932-7T>C
XM_006714041.3:c.1007-7T>C	XP_006714104.1:n.1007-7T>C
XM_017008281.1:c.971-7T>C	XP_016863770.1:n.971-7T>C
NM_006206.6:c.932-7T>C MANE Select	NP_006197.1:n.932-7T>C
NM_001347827.2:c.932-7T>C	NP_001334756.1:n.932-7T>C
NM_001347828.2:c.1007-7T>C	NP_001334757.1:n.1007-7T>C
NM_001347829.2:c.932-7T>C	NP_001334758.1:n.932-7T>C
NM_001347830.2:c.971-7T>C	NP_001334759.1:n.971-7T>C