Canonical Allele Identifier: CA1781846347
Gene: PRKDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47852764T= , CM000670.2:g.47852764T= GRCh38
NC_000008.10:g.48765325T= , CM000670.1:g.48765325T= GRCh37
NC_000008.9:g.48927878T= NCBI36
NG_023435.1:g.112420A= , LRG_162:g.112420A=

Transcript Alleles

HGVS Amino-acid change
ENST00000314191.7:c.6914A= MANE Select ENSP00000313420.3:p.Asn2305=
ENST00000314191.6:c.6914A= ENSP00000313420.3:p.Asn2305=
ENST00000338368.7:c.6914A= ENSP00000345182.4:p.Asn2305=
NM_001081640.1:c.6914A= NP_001075109.1:p.Asn2305=
NM_006904.6:c.6914A= , LRG_162t1:c.6914A= NP_008835.5:p.Asn2305=
XM_011517567.1:c.6914A= XP_011515869.1:p.Asn2305=
XM_011517568.1:c.6914A= XP_011515870.1:p.Asn2305=
NM_001081640.2:c.6914A= NP_001075109.1:p.Asn2305=
NM_006904.7:c.6914A= MANE Select NP_008835.5:p.Asn2305=