Canonical Allele Identifier: CA4739269
Gene: PRKDC HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.47789225A>T
GRCh37 chr8:g.48701786A>T
Revel Score:
ENST00000314191 (MANE Select) 0.104
ENST00000338368 0.104
gnomAD v2:
8:48701786 A / T
gnomAD v3:
8:47789225 A / T
gnomAD v4:
chr8-47789225-A-T
Joint Max Group AF 0.03394491 (AMR)
Genomes Max Group AF 0.03217765 (AMR)
Exomes Max Group AF 0.03395744 (AMR)
ClinVar RCV:
RCV000557472
RCV001613335
ClinVar Variation:
440194
dbSNP:
8178232
JSON-LD

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
ENST00000697602.1:n.1257T>A
ENST00000697603.1:c.3361T>A ENSP00000513358.1:p.Leu1121Met
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
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