Canonical Allele Identifier: CA4739564
Gene: PRKDC HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.47817561C>T
GRCh37 chr8:g.48730122C>T
Revel Score:
ENST00000314191 (MANE Select) 0.136
ENST00000338368 0.136
gnomAD v2:
8:48730122 C / T
gnomAD v3:
8:47817561 C / T
gnomAD v4:
chr8-47817561-C-T
Joint Max Group AF 0.02392842 (SAS)
Genomes Max Group AF 0.02147078 (SAS)
Exomes Max Group AF 0.02388588 (SAS)
JSON-LD

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
ENST00000697603.1:c.2123G>A ENSP00000513358.1:p.Gly708Asp
ENST00000697607.1:n.978G>A
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
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