Canonical Allele Identifier: CA460603590

Gene: PRKDC

Linked Data

• MyVariant Identifiers: chr8:g.48701515A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47788954A>C , CM000670.2:g.47788954A>C	GRCh38
NC_000008.10:g.48701515A>C , CM000670.1:g.48701515A>C	GRCh37
NC_000008.9:g.48864068A>C	NCBI36
NG_023435.1:g.176230T>G , LRG_162:g.176230T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697602.1:n.1427T>G
ENST00000697603.1:c.3531T>G	ENSP00000513358.1:p.Gly1177=
ENST00000314191.7:c.10854T>G MANE Select	ENSP00000313420.3:p.Gly3618=
ENST00000314191.6:c.10854T>G	ENSP00000313420.3:p.Gly3618=
ENST00000338368.7:c.10854T>G	ENSP00000345182.4:p.Gly3618=
NM_001081640.1:c.10854T>G	NP_001075109.1:p.Gly3618=
NM_006904.6:c.10854T>G , LRG_162t1:c.10854T>G	NP_008835.5:p.Gly3618=
XM_011517567.1:c.10857T>G	XP_011515869.1:p.Gly3619=
XM_011517568.1:c.10857T>G	XP_011515870.1:p.Gly3619=
NM_001081640.2:c.10854T>G	NP_001075109.1:p.Gly3618=
NM_006904.7:c.10854T>G MANE Select	NP_008835.5:p.Gly3618=