Canonical Allele Identifier: CA176149003

Gene: PRKDC

Linked Data

• dbSNP Id: rs1054380226
• gnomAD v4: 8-47879404-A-G
• MyVariant Identifiers: chr8:g.48791965A>G (hg19) ; chr8:g.47879404A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47879404A>G , CM000670.2:g.47879404A>G	GRCh38
NC_000008.10:g.48791965A>G , CM000670.1:g.48791965A>G	GRCh37
NC_000008.9:g.48954518A>G	NCBI36
NG_023435.1:g.85780T>C , LRG_162:g.85780T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000314191.7:c.5235+87T>C MANE Select	ENSP00000313420.3:n.5235+87T>C
ENST00000314191.6:c.5235+87T>C	ENSP00000313420.3:n.5235+87T>C
ENST00000338368.7:c.5235+87T>C	ENSP00000345182.4:n.5235+87T>C
NM_001081640.1:c.5235+87T>C	NP_001075109.1:n.5235+87T>C
NM_006904.6:c.5235+87T>C , LRG_162t1:c.5235+87T>C	NP_008835.5:n.5235+87T>C
XM_011517567.1:c.5235+87T>C	XP_011515869.1:n.5235+87T>C
XM_011517568.1:c.5235+87T>C	XP_011515870.1:n.5235+87T>C
NM_001081640.2:c.5235+87T>C	NP_001075109.1:n.5235+87T>C
NM_006904.7:c.5235+87T>C MANE Select	NP_008835.5:n.5235+87T>C