Canonical Allele Identifier: CA2687209299
Gene: PRKDC HGNC NCBI

Linked Data

gnomAD v4: 8-47960169-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47960169A>G , CM000670.2:g.47960169A>G GRCh38
NC_000008.10:g.48872729A>G , CM000670.1:g.48872729A>G GRCh37
NC_000008.9:g.49035282A>G NCBI36
NG_023435.1:g.5015T>C , LRG_162:g.5015T>C
NG_032967.1:g.4967A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000314191.6:c.-43T>C ENSP00000313420.3:n.-43T>C
ENST00000338368.7:c.-43T>C ENSP00000345182.4:n.-43T>C
NM_001081640.1:c.-43T>C NP_001075109.1:n.-43T>C
NM_006904.6:c.-43T>C , LRG_162t1:c.-43T>C NP_008835.5:n.-43T>C