Canonical Allele Identifier: CA581667395

Gene: PRKDC

Linked Data

• dbSNP Id: rs1031104660
• gnomAD v2: 8-48872705-C-T
• gnomAD v3: 8-47960145-C-T
• gnomAD v4: 8-47960145-C-T
• MyVariant Identifiers: chr8:g.48872705C>T (hg19) ; chr8:g.47960145C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47960145C>T , CM000670.2:g.47960145C>T	GRCh38
NC_000008.10:g.48872705C>T , CM000670.1:g.48872705C>T	GRCh37
NC_000008.9:g.49035258C>T	NCBI36
NG_023435.1:g.5039G>A , LRG_162:g.5039G>A
NG_032967.1:g.4943C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697591.1:n.23G>A
ENST00000314191.6:c.-19G>A	ENSP00000313420.3:n.-19G>A
ENST00000338368.7:c.-19G>A	ENSP00000345182.4:n.-19G>A
NM_001081640.1:c.-19G>A	NP_001075109.1:n.-19G>A
NM_006904.6:c.-19G>A , LRG_162t1:c.-19G>A	NP_008835.5:n.-19G>A
XM_011517567.1:c.-19G>A	XP_011515869.1:n.-19G>A
XM_011517568.1:c.-19G>A	XP_011515870.1:n.-19G>A