Canonical Allele Identifier: CA4739564
Gene: PRKDC HGNC NCBI

Linked Data

ClinVar Variation Id: 475242
dbSNP Id: rs8178208

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47817561C>T , CM000670.2:g.47817561C>T GRCh38
NC_000008.10:g.48730122C>T , CM000670.1:g.48730122C>T GRCh37
NC_000008.9:g.48892675C>T NCBI36
NG_023435.1:g.147623G>A , LRG_162:g.147623G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000314191.7:c.9446G>A MANE Select ENSP00000313420.3:p.Gly3149Asp
ENST00000314191.6:c.9446G>A ENSP00000313420.3:p.Gly3149Asp
ENST00000338368.7:c.9446G>A ENSP00000345182.4:p.Gly3149Asp
NM_001081640.1:c.9446G>A NP_001075109.1:p.Gly3149Asp
NM_006904.6:c.9446G>A , LRG_162t1:c.9446G>A NP_008835.5:p.Gly3149Asp
XM_011517567.1:c.9449G>A XP_011515869.1:p.Gly3150Asp
XM_011517568.1:c.9449G>A XP_011515870.1:p.Gly3150Asp
NM_001081640.2:c.9446G>A NP_001075109.1:p.Gly3149Asp
NM_006904.7:c.9446G>A MANE Select NP_008835.5:p.Gly3149Asp