Canonical Allele Identifier: CA1781883911
Gene: PRKDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47904156G= , CM000670.2:g.47904156G= GRCh38
NC_000008.10:g.48816716G= , CM000670.1:g.48816716G= GRCh37
NC_000008.9:g.48979269G= NCBI36
NG_023435.1:g.61028C= , LRG_162:g.61028C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000314191.7:c.3042+713C= MANE Select ENSP00000313420.3:n.3042+713C=
ENST00000314191.6:c.3042+713C= ENSP00000313420.3:n.3042+713C=
ENST00000338368.7:c.3042+713C= ENSP00000345182.4:n.3042+713C=
NM_001081640.1:c.3042+713C= NP_001075109.1:n.3042+713C=
NM_006904.6:c.3042+713C= , LRG_162t1:c.3042+713C= NP_008835.5:n.3042+713C=
XM_011517567.1:c.3042+713C= XP_011515869.1:n.3042+713C=
XM_011517568.1:c.3042+713C= XP_011515870.1:n.3042+713C=
NM_001081640.2:c.3042+713C= NP_001075109.1:n.3042+713C=
NM_006904.7:c.3042+713C= MANE Select NP_008835.5:n.3042+713C=