Canonical Allele Identifier: CA1781838165
Gene: PRKDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47817478T= , CM000670.2:g.47817478T= GRCh38
NC_000008.10:g.48730039T= , CM000670.1:g.48730039T= GRCh37
NC_000008.9:g.48892592T= NCBI36
NG_023435.1:g.147706A= , LRG_162:g.147706A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697603.1:c.2206A= ENSP00000513358.1:p.Asn736=
ENST00000697607.1:n.1061A=
ENST00000314191.7:c.9529A= MANE Select ENSP00000313420.3:p.Asn3177=
ENST00000314191.6:c.9529A= ENSP00000313420.3:p.Asn3177=
ENST00000338368.7:c.9529A= ENSP00000345182.4:p.Asn3177=
NM_001081640.1:c.9529A= NP_001075109.1:p.Asn3177=
NM_006904.6:c.9529A= , LRG_162t1:c.9529A= NP_008835.5:p.Asn3177=
XM_011517567.1:c.9532A= XP_011515869.1:p.Asn3178=
XM_011517568.1:c.9532A= XP_011515870.1:p.Asn3178=
NM_001081640.2:c.9529A= NP_001075109.1:p.Asn3177=
NM_006904.7:c.9529A= MANE Select NP_008835.5:p.Asn3177=