Canonical Allele Identifier: CA1781860597
Gene: PRKDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47862523A= , CM000670.2:g.47862523A= GRCh38
NC_000008.10:g.48775084A= , CM000670.1:g.48775084A= GRCh37
NC_000008.9:g.48937637A= NCBI36
NG_023435.1:g.102661T= , LRG_162:g.102661T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000314191.7:c.5769T= MANE Select ENSP00000313420.3:p.Phe1923=
ENST00000314191.6:c.5769T= ENSP00000313420.3:p.Phe1923=
ENST00000338368.7:c.5769T= ENSP00000345182.4:p.Phe1923=
ENST00000546304.1:n.435T=
NM_001081640.1:c.5769T= NP_001075109.1:p.Phe1923=
NM_006904.6:c.5769T= , LRG_162t1:c.5769T= NP_008835.5:p.Phe1923=
XM_011517567.1:c.5769T= XP_011515869.1:p.Phe1923=
XM_011517568.1:c.5769T= XP_011515870.1:p.Phe1923=
NM_001081640.2:c.5769T= NP_001075109.1:p.Phe1923=
NM_006904.7:c.5769T= MANE Select NP_008835.5:p.Phe1923=