Canonical Allele Identifier: CA4740197
Gene: PRKDC HGNC NCBI

Linked Data

ClinVar Variation Id: 541988
ClinVar RCV Id: RCV000652351
dbSNP Id: rs375706148
gnomAD v2: 8-48762060-A-G
gnomAD v3: 8-47849499-A-G
gnomAD v4: 8-47849499-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47849499A>G , CM000670.2:g.47849499A>G GRCh38
NC_000008.10:g.48762060A>G , CM000670.1:g.48762060A>G GRCh37
NC_000008.9:g.48924613A>G NCBI36
NG_023435.1:g.115685T>C , LRG_162:g.115685T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000314191.7:c.7010T>C MANE Select ENSP00000313420.3:p.Leu2337Pro
ENST00000314191.6:c.7010T>C ENSP00000313420.3:p.Leu2337Pro
ENST00000338368.7:c.7010T>C ENSP00000345182.4:p.Leu2337Pro
NM_001081640.1:c.7010T>C NP_001075109.1:p.Leu2337Pro
NM_006904.6:c.7010T>C , LRG_162t1:c.7010T>C NP_008835.5:p.Leu2337Pro
XM_011517567.1:c.7010T>C XP_011515869.1:p.Leu2337Pro
XM_011517568.1:c.7010T>C XP_011515870.1:p.Leu2337Pro
NM_001081640.2:c.7010T>C NP_001075109.1:p.Leu2337Pro
NM_006904.7:c.7010T>C MANE Select NP_008835.5:p.Leu2337Pro