Canonical Allele Identifier: CA439287184
Gene: PDGFRA HGNC NCBI

Linked Data

dbSNP Id: rs766052066
MyVariant Identifiers: chr4:g.55141040T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54274873T>A , CM000666.2:g.54274873T>A GRCh38
NC_000004.11:g.55141040T>A , CM000666.1:g.55141040T>A GRCh37
NC_000004.10:g.54835797T>A NCBI36
NG_009250.1:g.50777T>A , LRG_309:g.50777T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000257290.10:c.1686T>A MANE Select ENSP00000257290.5:p.Ile562=
ENST00000257290.9:c.1686T>A ENSP00000257290.5:p.Ile562=
ENST00000507166.5:c.1018-52T>A ENSP00000423325.1:n.1018-52T>A
ENST00000509092.5:n.1504T>A
ENST00000509490.5:c.1686T>A ENSP00000424218.1:p.Ile562=
NM_006206.4:c.1686T>A , LRG_309t1:c.1686T>A NP_006197.1:p.Ile562=
XM_005265743.1:c.1686T>A XP_005265800.1:p.Ile562=
XM_006714039.2:c.1761T>A XP_006714102.1:p.Ile587=
XM_006714041.2:c.1761T>A XP_006714104.1:p.Ile587=
XM_011534385.1:c.1686T>A XP_011532687.1:p.Ile562=
XM_011534386.1:c.1686T>A XP_011532688.1:p.Ile562=
NM_001347827.1:c.1686T>A NP_001334756.1:p.Ile562=
NM_001347828.1:c.1761T>A NP_001334757.1:p.Ile587=
NM_001347829.1:c.1686T>A NP_001334758.1:p.Ile562=
NM_001347830.1:c.1725T>A NP_001334759.1:p.Ile575=
NM_006206.5:c.1686T>A NP_006197.1:p.Ile562=
XM_006714041.3:c.1761T>A XP_006714104.1:p.Ile587=
XM_017008281.1:c.1725T>A XP_016863770.1:p.Ile575=
NM_006206.6:c.1686T>A MANE Select NP_006197.1:p.Ile562=
NM_001347827.2:c.1686T>A NP_001334756.1:p.Ile562=
NM_001347828.2:c.1761T>A NP_001334757.1:p.Ile587=
NM_001347829.2:c.1686T>A NP_001334758.1:p.Ile562=
NM_001347830.2:c.1725T>A NP_001334759.1:p.Ile575=