Canonical Allele Identifier: CA1781813518
Gene: PRKDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47788991A= , CM000670.2:g.47788991A= GRCh38
NC_000008.10:g.48701552A= , CM000670.1:g.48701552A= GRCh37
NC_000008.9:g.48864105A= NCBI36
NG_023435.1:g.176193T= , LRG_162:g.176193T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697602.1:n.1390T=
ENST00000697603.1:c.3494T= ENSP00000513358.1:p.Ile1165=
ENST00000314191.7:c.10817T= MANE Select ENSP00000313420.3:p.Ile3606=
ENST00000314191.6:c.10817T= ENSP00000313420.3:p.Ile3606=
ENST00000338368.7:c.10817T= ENSP00000345182.4:p.Ile3606=
NM_001081640.1:c.10817T= NP_001075109.1:p.Ile3606=
NM_006904.6:c.10817T= , LRG_162t1:c.10817T= NP_008835.5:p.Ile3606=
XM_011517567.1:c.10820T= XP_011515869.1:p.Ile3607=
XM_011517568.1:c.10820T= XP_011515870.1:p.Ile3607=
NM_001081640.2:c.10817T= NP_001075109.1:p.Ile3606=
NM_006904.7:c.10817T= MANE Select NP_008835.5:p.Ile3606=