Canonical Allele Identifier: CA4740222
Gene: PRKDC HGNC NCBI

Linked Data

ClinVar Variation Id: 475235
dbSNP Id: rs55726602

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47852742A>G , CM000670.2:g.47852742A>G GRCh38
NC_000008.10:g.48765303A>G , CM000670.1:g.48765303A>G GRCh37
NC_000008.9:g.48927856A>G NCBI36
NG_023435.1:g.112442T>C , LRG_162:g.112442T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000314191.7:c.6936T>C MANE Select ENSP00000313420.3:p.Tyr2312=
ENST00000314191.6:c.6936T>C ENSP00000313420.3:p.Tyr2312=
ENST00000338368.7:c.6936T>C ENSP00000345182.4:p.Tyr2312=
NM_001081640.1:c.6936T>C NP_001075109.1:p.Tyr2312=
NM_006904.6:c.6936T>C , LRG_162t1:c.6936T>C NP_008835.5:p.Tyr2312=
XM_011517567.1:c.6936T>C XP_011515869.1:p.Tyr2312=
XM_011517568.1:c.6936T>C XP_011515870.1:p.Tyr2312=
NM_001081640.2:c.6936T>C NP_001075109.1:p.Tyr2312=
NM_006904.7:c.6936T>C MANE Select NP_008835.5:p.Tyr2312=