Canonical Allele Identifier: CA581653077

Gene: PRKDC

Linked Data

• ClinVar Variation Id: 1659070
• ClinVar RCV Id: RCV002174515
• dbSNP Id: rs1298686465
• gnomAD v2: 8-48701619-G-A
• gnomAD v3: 8-47789058-G-A
• gnomAD v4: 8-47789058-G-A
• MyVariant Identifiers: chr8:g.48701619G>A (hg19) ; chr8:g.47789058G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47789058G>A , CM000670.2:g.47789058G>A	GRCh38
NC_000008.10:g.48701619G>A , CM000670.1:g.48701619G>A	GRCh37
NC_000008.9:g.48864172G>A	NCBI36
NG_023435.1:g.176126C>T , LRG_162:g.176126C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697602.1:n.1332-9C>T
ENST00000697603.1:c.3436-9C>T	ENSP00000513358.1:n.3436-9C>T
ENST00000314191.7:c.10759-9C>T MANE Select	ENSP00000313420.3:n.10759-9C>T
ENST00000314191.6:c.10759-9C>T	ENSP00000313420.3:n.10759-9C>T
ENST00000338368.7:c.10759-9C>T	ENSP00000345182.4:n.10759-9C>T
NM_001081640.1:c.10759-9C>T	NP_001075109.1:n.10759-9C>T
NM_006904.6:c.10759-9C>T , LRG_162t1:c.10759-9C>T	NP_008835.5:n.10759-9C>T
XM_011517567.1:c.10762-9C>T	XP_011515869.1:n.10762-9C>T
XM_011517568.1:c.10762-9C>T	XP_011515870.1:n.10762-9C>T
NM_001081640.2:c.10759-9C>T	NP_001075109.1:n.10759-9C>T
NM_006904.7:c.10759-9C>T MANE Select	NP_008835.5:n.10759-9C>T