Canonical Allele Identifier: CA371132341

Gene: PRKDC

Linked Data

• MyVariant Identifiers: chr8:g.48701716A>T (hg19) ; chr8:g.47789155A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47789155A>T , CM000670.2:g.47789155A>T	GRCh38
NC_000008.10:g.48701716A>T , CM000670.1:g.48701716A>T	GRCh37
NC_000008.9:g.48864269A>T	NCBI36
NG_023435.1:g.176029T>A , LRG_162:g.176029T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697602.1:n.1327T>A
ENST00000697603.1:c.3431T>A	ENSP00000513358.1:p.Phe1144Tyr
ENST00000314191.7:c.10754T>A MANE Select	ENSP00000313420.3:p.Phe3585Tyr
ENST00000314191.6:c.10754T>A	ENSP00000313420.3:p.Phe3585Tyr
ENST00000338368.7:c.10754T>A	ENSP00000345182.4:p.Phe3585Tyr
NM_001081640.1:c.10754T>A	NP_001075109.1:p.Phe3585Tyr
NM_006904.6:c.10754T>A , LRG_162t1:c.10754T>A	NP_008835.5:p.Phe3585Tyr
XM_011517567.1:c.10757T>A	XP_011515869.1:p.Phe3586Tyr
XM_011517568.1:c.10757T>A	XP_011515870.1:p.Phe3586Tyr
NM_001081640.2:c.10754T>A	NP_001075109.1:p.Phe3585Tyr
NM_006904.7:c.10754T>A MANE Select	NP_008835.5:p.Phe3585Tyr