Canonical Allele Identifier: CA371132365

Gene: PRKDC

Linked Data

• MyVariant Identifiers: chr8:g.48701729G>C (hg19) ; chr8:g.47789168G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47789168G>C , CM000670.2:g.47789168G>C	GRCh38
NC_000008.10:g.48701729G>C , CM000670.1:g.48701729G>C	GRCh37
NC_000008.9:g.48864282G>C	NCBI36
NG_023435.1:g.176016C>G , LRG_162:g.176016C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697602.1:n.1314C>G
ENST00000697603.1:c.3418C>G	ENSP00000513358.1:p.Pro1140Ala
ENST00000314191.7:c.10741C>G MANE Select	ENSP00000313420.3:p.Pro3581Ala
ENST00000314191.6:c.10741C>G	ENSP00000313420.3:p.Pro3581Ala
ENST00000338368.7:c.10741C>G	ENSP00000345182.4:p.Pro3581Ala
NM_001081640.1:c.10741C>G	NP_001075109.1:p.Pro3581Ala
NM_006904.6:c.10741C>G , LRG_162t1:c.10741C>G	NP_008835.5:p.Pro3581Ala
XM_011517567.1:c.10744C>G	XP_011515869.1:p.Pro3582Ala
XM_011517568.1:c.10744C>G	XP_011515870.1:p.Pro3582Ala
NM_001081640.2:c.10741C>G	NP_001075109.1:p.Pro3581Ala
NM_006904.7:c.10741C>G MANE Select	NP_008835.5:p.Pro3581Ala