Canonical Allele Identifier: CA1781838168
Gene: PRKDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47817484G= , CM000670.2:g.47817484G= GRCh38
NC_000008.10:g.48730045G= , CM000670.1:g.48730045G= GRCh37
NC_000008.9:g.48892598G= NCBI36
NG_023435.1:g.147700C= , LRG_162:g.147700C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697603.1:c.2200C= ENSP00000513358.1:p.Pro734=
ENST00000697607.1:n.1055C=
ENST00000314191.7:c.9523C= MANE Select ENSP00000313420.3:p.Pro3175=
ENST00000314191.6:c.9523C= ENSP00000313420.3:p.Pro3175=
ENST00000338368.7:c.9523C= ENSP00000345182.4:p.Pro3175=
NM_001081640.1:c.9523C= NP_001075109.1:p.Pro3175=
NM_006904.6:c.9523C= , LRG_162t1:c.9523C= NP_008835.5:p.Pro3175=
XM_011517567.1:c.9526C= XP_011515869.1:p.Pro3176=
XM_011517568.1:c.9526C= XP_011515870.1:p.Pro3176=
NM_001081640.2:c.9523C= NP_001075109.1:p.Pro3175=
NM_006904.7:c.9523C= MANE Select NP_008835.5:p.Pro3175=