Canonical Allele Identifier: CA1781860386
Gene: PRKDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47862381G= , CM000670.2:g.47862381G= GRCh38
NC_000008.10:g.48774942G= , CM000670.1:g.48774942G= GRCh37
NC_000008.9:g.48937495G= NCBI36
NG_023435.1:g.102803C= , LRG_162:g.102803C=

Transcript Alleles

HGVS Amino-acid change
ENST00000314191.7:c.5911C= MANE Select ENSP00000313420.3:p.Pro1971=
ENST00000314191.6:c.5911C= ENSP00000313420.3:p.Pro1971=
ENST00000338368.7:c.5911C= ENSP00000345182.4:p.Pro1971=
ENST00000546304.1:n.577C=
NM_001081640.1:c.5911C= NP_001075109.1:p.Pro1971=
NM_006904.6:c.5911C= , LRG_162t1:c.5911C= NP_008835.5:p.Pro1971=
XM_011517567.1:c.5911C= XP_011515869.1:p.Pro1971=
XM_011517568.1:c.5911C= XP_011515870.1:p.Pro1971=
NM_001081640.2:c.5911C= NP_001075109.1:p.Pro1971=
NM_006904.7:c.5911C= MANE Select NP_008835.5:p.Pro1971=