Canonical Allele Identifier: CA176143579

Gene: PRKDC

Linked Data

• ClinVar Variation Id: 1581703
• ClinVar RCV Id: RCV002111007
• dbSNP Id: rs901770979
• gnomAD v2: 8-48701622-A-C
• gnomAD v3: 8-47789061-A-C
• gnomAD v4: 8-47789061-A-C
• MyVariant Identifiers: chr8:g.48701622A>C (hg19) ; chr8:g.47789061A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47789061A>C , CM000670.2:g.47789061A>C	GRCh38
NC_000008.10:g.48701622A>C , CM000670.1:g.48701622A>C	GRCh37
NC_000008.9:g.48864175A>C	NCBI36
NG_023435.1:g.176123T>G , LRG_162:g.176123T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697602.1:n.1332-12T>G
ENST00000697603.1:c.3436-12T>G	ENSP00000513358.1:n.3436-12T>G
ENST00000314191.7:c.10759-12T>G MANE Select	ENSP00000313420.3:n.10759-12T>G
ENST00000314191.6:c.10759-12T>G	ENSP00000313420.3:n.10759-12T>G
ENST00000338368.7:c.10759-12T>G	ENSP00000345182.4:n.10759-12T>G
NM_001081640.1:c.10759-12T>G	NP_001075109.1:n.10759-12T>G
NM_006904.6:c.10759-12T>G , LRG_162t1:c.10759-12T>G	NP_008835.5:n.10759-12T>G
XM_011517567.1:c.10762-12T>G	XP_011515869.1:n.10762-12T>G
XM_011517568.1:c.10762-12T>G	XP_011515870.1:n.10762-12T>G
NM_001081640.2:c.10759-12T>G	NP_001075109.1:n.10759-12T>G
NM_006904.7:c.10759-12T>G MANE Select	NP_008835.5:n.10759-12T>G