Canonical Allele Identifier: CA1781838164
Gene: PRKDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47817477T= , CM000670.2:g.47817477T= GRCh38
NC_000008.10:g.48730038T= , CM000670.1:g.48730038T= GRCh37
NC_000008.9:g.48892591T= NCBI36
NG_023435.1:g.147707A= , LRG_162:g.147707A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697603.1:c.2207A= ENSP00000513358.1:p.Asn736=
ENST00000697607.1:n.1062A=
ENST00000314191.7:c.9530A= MANE Select ENSP00000313420.3:p.Asn3177=
ENST00000314191.6:c.9530A= ENSP00000313420.3:p.Asn3177=
ENST00000338368.7:c.9530A= ENSP00000345182.4:p.Asn3177=
NM_001081640.1:c.9530A= NP_001075109.1:p.Asn3177=
NM_006904.6:c.9530A= , LRG_162t1:c.9530A= NP_008835.5:p.Asn3177=
XM_011517567.1:c.9533A= XP_011515869.1:p.Asn3178=
XM_011517568.1:c.9533A= XP_011515870.1:p.Asn3178=
NM_001081640.2:c.9530A= NP_001075109.1:p.Asn3177=
NM_006904.7:c.9530A= MANE Select NP_008835.5:p.Asn3177=