Canonical Allele Identifier: CA2579161202

Gene: PRKDC

Linked Data

• gnomAD v4: 8-47817594-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47817594C>G , CM000670.2:g.47817594C>G	GRCh38
NC_000008.10:g.48730155C>G , CM000670.1:g.48730155C>G	GRCh37
NC_000008.9:g.48892708C>G	NCBI36
NG_023435.1:g.147590G>C , LRG_162:g.147590G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697603.1:c.2123-33G>C	ENSP00000513358.1:n.2123-33G>C
ENST00000697607.1:n.945G>C
ENST00000314191.7:c.9446-33G>C MANE Select	ENSP00000313420.3:n.9446-33G>C
ENST00000314191.6:c.9446-33G>C	ENSP00000313420.3:n.9446-33G>C
ENST00000338368.7:c.9446-33G>C	ENSP00000345182.4:n.9446-33G>C
NM_001081640.1:c.9446-33G>C	NP_001075109.1:n.9446-33G>C
NM_006904.6:c.9446-33G>C , LRG_162t1:c.9446-33G>C	NP_008835.5:n.9446-33G>C
XM_011517567.1:c.9449-33G>C	XP_011515869.1:n.9449-33G>C
XM_011517568.1:c.9449-33G>C	XP_011515870.1:n.9449-33G>C
NM_001081640.2:c.9446-33G>C	NP_001075109.1:n.9446-33G>C
NM_006904.7:c.9446-33G>C MANE Select	NP_008835.5:n.9446-33G>C