Canonical Allele Identifier: CA4739238

Gene: PRKDC

Linked Data

• ClinVar Variation Id: 1032501
• ClinVar RCV Id: RCV001334616
• dbSNP Id: rs531330017
• ExAC: 8:48701591 C / T
• gnomAD v2: 8-48701591-C-T
• gnomAD v3: 8-47789030-C-T
• gnomAD v4: 8-47789030-C-T
• MyVariant Identifiers: chr8:g.48701591C>T (hg19) ; chr8:g.47789030C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47789030C>T , CM000670.2:g.47789030C>T	GRCh38
NC_000008.10:g.48701591C>T , CM000670.1:g.48701591C>T	GRCh37
NC_000008.9:g.48864144C>T	NCBI36
NG_023435.1:g.176154G>A , LRG_162:g.176154G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697602.1:n.1351G>A
ENST00000697603.1:c.3455G>A	ENSP00000513358.1:p.Arg1152Lys
ENST00000314191.7:c.10778G>A MANE Select	ENSP00000313420.3:p.Arg3593Lys
ENST00000314191.6:c.10778G>A	ENSP00000313420.3:p.Arg3593Lys
ENST00000338368.7:c.10778G>A	ENSP00000345182.4:p.Arg3593Lys
NM_001081640.1:c.10778G>A	NP_001075109.1:p.Arg3593Lys
NM_006904.6:c.10778G>A , LRG_162t1:c.10778G>A	NP_008835.5:p.Arg3593Lys
XM_011517567.1:c.10781G>A	XP_011515869.1:p.Arg3594Lys
XM_011517568.1:c.10781G>A	XP_011515870.1:p.Arg3594Lys
NM_001081640.2:c.10778G>A	NP_001075109.1:p.Arg3593Lys
NM_006904.7:c.10778G>A MANE Select	NP_008835.5:p.Arg3593Lys