Canonical Allele Identifier: CA581930036
Gene: PRKDC HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.47862368C>T
GRCh37 chr8:g.48774929C>T
gnomAD v2:
8:48774929 C / T
gnomAD v4:
chr8-47862368-C-T
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar Allele:
1407316
ClinVar RCV:
RCV002023649
ClinVar Variation:
1516038
dbSNP:
1240315959
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47862368C>T , CM000670.2:g.47862368C>T GRCh38
NC_000008.10:g.48774929C>T , CM000670.1:g.48774929C>T GRCh37
NC_000008.9:g.48937482C>T NCBI36
NG_023435.1:g.102816G>A , LRG_162:g.102816G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000314191.7:c.5919+5G>A MANE Select ENSP00000313420.3:n.5919+5G>A
ENST00000314191.6:c.5919+5G>A ENSP00000313420.3:n.5919+5G>A
ENST00000338368.7:c.5919+5G>A ENSP00000345182.4:n.5919+5G>A
NM_001081640.1:c.5919+5G>A NP_001075109.1:n.5919+5G>A
NM_006904.6:c.5919+5G>A , LRG_162t1:c.5919+5G>A NP_008835.5:n.5919+5G>A
XM_011517567.1:c.5919+5G>A XP_011515869.1:n.5919+5G>A
XM_011517568.1:c.5919+5G>A XP_011515870.1:n.5919+5G>A
NM_001081640.2:c.5919+5G>A NP_001075109.1:n.5919+5G>A
NM_006904.7:c.5919+5G>A MANE Select NP_008835.5:n.5919+5G>A
Search 100 bp 5'
Search 100 bp 3'