Canonical Allele Identifier: CA2687209244

Gene: PRKDC

Linked Data

• gnomAD v4: 8-47960144-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47960144C>G , CM000670.2:g.47960144C>G	GRCh38
NC_000008.10:g.48872704C>G , CM000670.1:g.48872704C>G	GRCh37
NC_000008.9:g.49035257C>G	NCBI36
NG_023435.1:g.5040G>C , LRG_162:g.5040G>C
NG_032967.1:g.4942C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697591.1:n.24G>C
ENST00000314191.6:c.-18G>C	ENSP00000313420.3:n.-18G>C
ENST00000338368.7:c.-18G>C	ENSP00000345182.4:n.-18G>C
NM_001081640.1:c.-18G>C	NP_001075109.1:n.-18G>C
NM_006904.6:c.-18G>C , LRG_162t1:c.-18G>C	NP_008835.5:n.-18G>C
XM_011517567.1:c.-18G>C	XP_011515869.1:n.-18G>C
XM_011517568.1:c.-18G>C	XP_011515870.1:n.-18G>C