Canonical Allele Identifier: CA1781846164

Gene: PRKDC

Linked Data

• dbSNP Id: rs2088435702
• gnomAD v4: 8-47852657-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47852657T>C , CM000670.2:g.47852657T>C	GRCh38
NC_000008.10:g.48765218T>C , CM000670.1:g.48765218T>C	GRCh37
NC_000008.9:g.48927771T>C	NCBI36
NG_023435.1:g.112527A>G , LRG_162:g.112527A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000314191.7:c.7005+16A>G MANE Select	ENSP00000313420.3:n.7005+16A>G
ENST00000314191.6:c.7005+16A>G	ENSP00000313420.3:n.7005+16A>G
ENST00000338368.7:c.7005+16A>G	ENSP00000345182.4:n.7005+16A>G
NM_001081640.1:c.7005+16A>G	NP_001075109.1:n.7005+16A>G
NM_006904.6:c.7005+16A>G , LRG_162t1:c.7005+16A>G	NP_008835.5:n.7005+16A>G
XM_011517567.1:c.7005+16A>G	XP_011515869.1:n.7005+16A>G
XM_011517568.1:c.7005+16A>G	XP_011515870.1:n.7005+16A>G
NM_001081640.2:c.7005+16A>G	NP_001075109.1:n.7005+16A>G
NM_006904.7:c.7005+16A>G MANE Select	NP_008835.5:n.7005+16A>G