Canonical Allele Identifier: CA4739269
Gene: PRKDC HGNC NCBI

Linked Data

ClinVar Variation Id: 440194
dbSNP Id: rs8178232

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47789225A>T , CM000670.2:g.47789225A>T GRCh38
NC_000008.10:g.48701786A>T , CM000670.1:g.48701786A>T GRCh37
NC_000008.9:g.48864339A>T NCBI36
NG_023435.1:g.175959T>A , LRG_162:g.175959T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000314191.7:c.10684T>A MANE Select ENSP00000313420.3:p.Leu3562Met
ENST00000314191.6:c.10684T>A ENSP00000313420.3:p.Leu3562Met
ENST00000338368.7:c.10684T>A ENSP00000345182.4:p.Leu3562Met
NM_001081640.1:c.10684T>A NP_001075109.1:p.Leu3562Met
NM_006904.6:c.10684T>A , LRG_162t1:c.10684T>A NP_008835.5:p.Leu3562Met
XM_011517567.1:c.10687T>A XP_011515869.1:p.Leu3563Met
XM_011517568.1:c.10687T>A XP_011515870.1:p.Leu3563Met
NM_001081640.2:c.10684T>A NP_001075109.1:p.Leu3562Met
NM_006904.7:c.10684T>A MANE Select NP_008835.5:p.Leu3562Met