Canonical Allele Identifier: CA460603914

Gene: PRKDC

Linked Data

• ClinVar Variation Id: 798068
• ClinVar RCV Id: RCV000981564
• dbSNP Id: rs1589696373
• MyVariant Identifiers: chr8:g.48701583G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47789022G>A , CM000670.2:g.47789022G>A	GRCh38
NC_000008.10:g.48701583G>A , CM000670.1:g.48701583G>A	GRCh37
NC_000008.9:g.48864136G>A	NCBI36
NG_023435.1:g.176162C>T , LRG_162:g.176162C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697602.1:n.1359C>T
ENST00000697603.1:c.3463C>T	ENSP00000513358.1:p.Leu1155=
ENST00000314191.7:c.10786C>T MANE Select	ENSP00000313420.3:p.Leu3596=
ENST00000314191.6:c.10786C>T	ENSP00000313420.3:p.Leu3596=
ENST00000338368.7:c.10786C>T	ENSP00000345182.4:p.Leu3596=
NM_001081640.1:c.10786C>T	NP_001075109.1:p.Leu3596=
NM_006904.6:c.10786C>T , LRG_162t1:c.10786C>T	NP_008835.5:p.Leu3596=
XM_011517567.1:c.10789C>T	XP_011515869.1:p.Leu3597=
XM_011517568.1:c.10789C>T	XP_011515870.1:p.Leu3597=
NM_001081640.2:c.10786C>T	NP_001075109.1:p.Leu3596=
NM_006904.7:c.10786C>T MANE Select	NP_008835.5:p.Leu3596=