Canonical Allele Identifier: CA1781813530
Gene: PRKDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47789022G= , CM000670.2:g.47789022G= GRCh38
NC_000008.10:g.48701583G= , CM000670.1:g.48701583G= GRCh37
NC_000008.9:g.48864136G= NCBI36
NG_023435.1:g.176162C= , LRG_162:g.176162C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697602.1:n.1359C=
ENST00000697603.1:c.3463C= ENSP00000513358.1:p.Leu1155=
ENST00000314191.7:c.10786C= MANE Select ENSP00000313420.3:p.Leu3596=
ENST00000314191.6:c.10786C= ENSP00000313420.3:p.Leu3596=
ENST00000338368.7:c.10786C= ENSP00000345182.4:p.Leu3596=
NM_001081640.1:c.10786C= NP_001075109.1:p.Leu3596=
NM_006904.6:c.10786C= , LRG_162t1:c.10786C= NP_008835.5:p.Leu3596=
XM_011517567.1:c.10789C= XP_011515869.1:p.Leu3597=
XM_011517568.1:c.10789C= XP_011515870.1:p.Leu3597=
NM_001081640.2:c.10786C= NP_001075109.1:p.Leu3596=
NM_006904.7:c.10786C= MANE Select NP_008835.5:p.Leu3596=