Canonical Allele Identifier: CA4740222

Gene: PRKDC

Linked Data

• ClinVar Variation Id: 475235
• ClinVar RCV Id: RCV000530242 ; RCV001573478
• dbSNP Id: rs55726602
• ExAC: 8:48765303 A / G
• gnomAD v2: 8-48765303-A-G
• gnomAD v3: 8-47852742-A-G
• gnomAD v4: 8-47852742-A-G
• MyVariant Identifiers: chr8:g.48765303A>G (hg19) ; chr8:g.47852742A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47852742A>G , CM000670.2:g.47852742A>G	GRCh38
NC_000008.10:g.48765303A>G , CM000670.1:g.48765303A>G	GRCh37
NC_000008.9:g.48927856A>G	NCBI36
NG_023435.1:g.112442T>C , LRG_162:g.112442T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000314191.7:c.6936T>C MANE Select	ENSP00000313420.3:p.Tyr2312=
ENST00000314191.6:c.6936T>C	ENSP00000313420.3:p.Tyr2312=
ENST00000338368.7:c.6936T>C	ENSP00000345182.4:p.Tyr2312=
NM_001081640.1:c.6936T>C	NP_001075109.1:p.Tyr2312=
NM_006904.6:c.6936T>C , LRG_162t1:c.6936T>C	NP_008835.5:p.Tyr2312=
XM_011517567.1:c.6936T>C	XP_011515869.1:p.Tyr2312=
XM_011517568.1:c.6936T>C	XP_011515870.1:p.Tyr2312=
NM_001081640.2:c.6936T>C	NP_001075109.1:p.Tyr2312=
NM_006904.7:c.6936T>C MANE Select	NP_008835.5:p.Tyr2312=