Canonical Allele Identifier: CA4741684
Gene: PRKDC HGNC NCBI

Linked Data

ClinVar Variation Id: 379395
dbSNP Id: rs1231202
gnomAD v2: 8-48846519-T-C
gnomAD v3: 8-47933959-T-C
gnomAD v4: 8-47933959-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47933959T>C , CM000670.2:g.47933959T>C GRCh38
NC_000008.10:g.48846519T>C , CM000670.1:g.48846519T>C GRCh37
NC_000008.9:g.49009072T>C NCBI36
NG_023435.1:g.31225A>G , LRG_162:g.31225A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697591.1:n.1670A>G
ENST00000314191.7:c.1623+6A>G MANE Select ENSP00000313420.3:n.1623+6A>G
ENST00000314191.6:c.1623+6A>G ENSP00000313420.3:n.1623+6A>G
ENST00000338368.7:c.1623+6A>G ENSP00000345182.4:n.1623+6A>G
NM_001081640.1:c.1623+6A>G NP_001075109.1:n.1623+6A>G
NM_006904.6:c.1623+6A>G , LRG_162t1:c.1623+6A>G NP_008835.5:n.1623+6A>G
XM_011517567.1:c.1623+6A>G XP_011515869.1:n.1623+6A>G
XM_011517568.1:c.1623+6A>G XP_011515870.1:n.1623+6A>G
NM_001081640.2:c.1623+6A>G NP_001075109.1:n.1623+6A>G
NM_006904.7:c.1623+6A>G MANE Select NP_008835.5:n.1623+6A>G