Canonical Allele Identifier: CA371132292

Gene: PRKDC

Linked Data

• MyVariant Identifiers: chr8:g.48701602G>C (hg19) ; chr8:g.47789041G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47789041G>C , CM000670.2:g.47789041G>C	GRCh38
NC_000008.10:g.48701602G>C , CM000670.1:g.48701602G>C	GRCh37
NC_000008.9:g.48864155G>C	NCBI36
NG_023435.1:g.176143C>G , LRG_162:g.176143C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697602.1:n.1340C>G
ENST00000697603.1:c.3444C>G	ENSP00000513358.1:p.Ser1148Arg
ENST00000314191.7:c.10767C>G MANE Select	ENSP00000313420.3:p.Ser3589Arg
ENST00000314191.6:c.10767C>G	ENSP00000313420.3:p.Ser3589Arg
ENST00000338368.7:c.10767C>G	ENSP00000345182.4:p.Ser3589Arg
NM_001081640.1:c.10767C>G	NP_001075109.1:p.Ser3589Arg
NM_006904.6:c.10767C>G , LRG_162t1:c.10767C>G	NP_008835.5:p.Ser3589Arg
XM_011517567.1:c.10770C>G	XP_011515869.1:p.Ser3590Arg
XM_011517568.1:c.10770C>G	XP_011515870.1:p.Ser3590Arg
NM_001081640.2:c.10767C>G	NP_001075109.1:p.Ser3589Arg
NM_006904.7:c.10767C>G MANE Select	NP_008835.5:p.Ser3589Arg