Canonical Allele Identifier: CA356895038

Gene: PDGFRA

Linked Data

• gnomAD v4: 4-54285929-T-C
• MyVariant Identifiers: chr4:g.55152096T>C (hg19) ; chr4:g.54285929T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54285929T>C , CM000666.2:g.54285929T>C	GRCh38
NC_000004.11:g.55152096T>C , CM000666.1:g.55152096T>C	GRCh37
NC_000004.10:g.54846853T>C	NCBI36
NG_009250.1:g.61833T>C , LRG_309:g.61833T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000257290.10:c.2528T>C MANE Select	ENSP00000257290.5:p.Ile843Thr
ENST00000257290.9:c.2528T>C	ENSP00000257290.5:p.Ile843Thr
ENST00000507166.5:c.1808T>C	ENSP00000423325.1:p.Ile603Thr
NM_006206.4:c.2528T>C , LRG_309t1:c.2528T>C	NP_006197.1:p.Ile843Thr
XM_005265743.1:c.2528T>C	XP_005265800.1:p.Ile843Thr
XM_006714039.2:c.2603T>C	XP_006714102.1:p.Ile868Thr
XM_011534385.1:c.2528T>C	XP_011532687.1:p.Ile843Thr
XM_011534386.1:c.2528T>C	XP_011532688.1:p.Ile843Thr
NM_001347828.1:c.2603T>C	NP_001334757.1:p.Ile868Thr
NM_001347829.1:c.2528T>C	NP_001334758.1:p.Ile843Thr
NM_001347830.1:c.2567T>C	NP_001334759.1:p.Ile856Thr
NM_006206.5:c.2528T>C	NP_006197.1:p.Ile843Thr
NM_006206.6:c.2528T>C MANE Select	NP_006197.1:p.Ile843Thr
NM_001347828.2:c.2603T>C	NP_001334757.1:p.Ile868Thr
NM_001347829.2:c.2528T>C	NP_001334758.1:p.Ile843Thr
NM_001347830.2:c.2567T>C	NP_001334759.1:p.Ile856Thr