Canonical Allele Identifier: CA371137035

Gene: PRKDC

Linked Data

• MyVariant Identifiers: chr8:g.48730044G>C (hg19) ; chr8:g.47817483G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47817483G>C , CM000670.2:g.47817483G>C	GRCh38
NC_000008.10:g.48730044G>C , CM000670.1:g.48730044G>C	GRCh37
NC_000008.9:g.48892597G>C	NCBI36
NG_023435.1:g.147701C>G , LRG_162:g.147701C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697603.1:c.2201C>G	ENSP00000513358.1:p.Pro734Arg
ENST00000697607.1:n.1056C>G
ENST00000314191.7:c.9524C>G MANE Select	ENSP00000313420.3:p.Pro3175Arg
ENST00000314191.6:c.9524C>G	ENSP00000313420.3:p.Pro3175Arg
ENST00000338368.7:c.9524C>G	ENSP00000345182.4:p.Pro3175Arg
NM_001081640.1:c.9524C>G	NP_001075109.1:p.Pro3175Arg
NM_006904.6:c.9524C>G , LRG_162t1:c.9524C>G	NP_008835.5:p.Pro3175Arg
XM_011517567.1:c.9527C>G	XP_011515869.1:p.Pro3176Arg
XM_011517568.1:c.9527C>G	XP_011515870.1:p.Pro3176Arg
NM_001081640.2:c.9524C>G	NP_001075109.1:p.Pro3175Arg
NM_006904.7:c.9524C>G MANE Select	NP_008835.5:p.Pro3175Arg