Canonical Allele Identifier: CA4741252

Gene: PRKDC

Linked Data

• ClinVar Variation Id: 542017
• ClinVar RCV Id: RCV000652380 ; RCV002442355
• dbSNP Id: rs183986754
• ExAC: 8:48815176 C / T
• gnomAD v2: 8-48815176-C-T
• gnomAD v3: 8-47902616-C-T
• gnomAD v4: 8-47902616-C-T
• MyVariant Identifiers: chr8:g.48815176C>T (hg19) ; chr8:g.47902616C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47902616C>T , CM000670.2:g.47902616C>T	GRCh38
NC_000008.10:g.48815176C>T , CM000670.1:g.48815176C>T	GRCh37
NC_000008.9:g.48977729C>T	NCBI36
NG_023435.1:g.62568G>A , LRG_162:g.62568G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000314191.7:c.3222G>A MANE Select	ENSP00000313420.3:p.Lys1074=
ENST00000314191.6:c.3222G>A	ENSP00000313420.3:p.Lys1074=
ENST00000338368.7:c.3222G>A	ENSP00000345182.4:p.Lys1074=
NM_001081640.1:c.3222G>A	NP_001075109.1:p.Lys1074=
NM_006904.6:c.3222G>A , LRG_162t1:c.3222G>A	NP_008835.5:p.Lys1074=
XM_011517567.1:c.3222G>A	XP_011515869.1:p.Lys1074=
XM_011517568.1:c.3222G>A	XP_011515870.1:p.Lys1074=
NM_001081640.2:c.3222G>A	NP_001075109.1:p.Lys1074=
NM_006904.7:c.3222G>A MANE Select	NP_008835.5:p.Lys1074=