Canonical Allele Identifier: CA1781838161
Gene: PRKDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47817463T= , CM000670.2:g.47817463T= GRCh38
NC_000008.10:g.48730024T= , CM000670.1:g.48730024T= GRCh37
NC_000008.9:g.48892577T= NCBI36
NG_023435.1:g.147721A= , LRG_162:g.147721A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697603.1:c.2221A= ENSP00000513358.1:p.Ile741=
ENST00000697607.1:n.1076A=
ENST00000314191.7:c.9544A= MANE Select ENSP00000313420.3:p.Ile3182=
ENST00000314191.6:c.9544A= ENSP00000313420.3:p.Ile3182=
ENST00000338368.7:c.9544A= ENSP00000345182.4:p.Ile3182=
NM_001081640.1:c.9544A= NP_001075109.1:p.Ile3182=
NM_006904.6:c.9544A= , LRG_162t1:c.9544A= NP_008835.5:p.Ile3182=
XM_011517567.1:c.9547A= XP_011515869.1:p.Ile3183=
XM_011517568.1:c.9547A= XP_011515870.1:p.Ile3183=
NM_001081640.2:c.9544A= NP_001075109.1:p.Ile3182=
NM_006904.7:c.9544A= MANE Select NP_008835.5:p.Ile3182=