Canonical Allele Identifier: CA1781813538
Gene: PRKDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47789043T= , CM000670.2:g.47789043T= GRCh38
NC_000008.10:g.48701604T= , CM000670.1:g.48701604T= GRCh37
NC_000008.9:g.48864157T= NCBI36
NG_023435.1:g.176141A= , LRG_162:g.176141A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697602.1:n.1338A=
ENST00000697603.1:c.3442A= ENSP00000513358.1:p.Ser1148=
ENST00000314191.7:c.10765A= MANE Select ENSP00000313420.3:p.Ser3589=
ENST00000314191.6:c.10765A= ENSP00000313420.3:p.Ser3589=
ENST00000338368.7:c.10765A= ENSP00000345182.4:p.Ser3589=
NM_001081640.1:c.10765A= NP_001075109.1:p.Ser3589=
NM_006904.6:c.10765A= , LRG_162t1:c.10765A= NP_008835.5:p.Ser3589=
XM_011517567.1:c.10768A= XP_011515869.1:p.Ser3590=
XM_011517568.1:c.10768A= XP_011515870.1:p.Ser3590=
NM_001081640.2:c.10765A= NP_001075109.1:p.Ser3589=
NM_006904.7:c.10765A= MANE Select NP_008835.5:p.Ser3589=