Canonical Allele Identifier: CA1781838163
Gene: PRKDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47817474A= , CM000670.2:g.47817474A= GRCh38
NC_000008.10:g.48730035A= , CM000670.1:g.48730035A= GRCh37
NC_000008.9:g.48892588A= NCBI36
NG_023435.1:g.147710T= , LRG_162:g.147710T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697603.1:c.2210T= ENSP00000513358.1:p.Ile737=
ENST00000697607.1:n.1065T=
ENST00000314191.7:c.9533T= MANE Select ENSP00000313420.3:p.Ile3178=
ENST00000314191.6:c.9533T= ENSP00000313420.3:p.Ile3178=
ENST00000338368.7:c.9533T= ENSP00000345182.4:p.Ile3178=
NM_001081640.1:c.9533T= NP_001075109.1:p.Ile3178=
NM_006904.6:c.9533T= , LRG_162t1:c.9533T= NP_008835.5:p.Ile3178=
XM_011517567.1:c.9536T= XP_011515869.1:p.Ile3179=
XM_011517568.1:c.9536T= XP_011515870.1:p.Ile3179=
NM_001081640.2:c.9533T= NP_001075109.1:p.Ile3178=
NM_006904.7:c.9533T= MANE Select NP_008835.5:p.Ile3178=