Canonical Allele Identifier: CA371132348

Gene: PRKDC

Linked Data

• MyVariant Identifiers: chr8:g.48701720G>T (hg19) ; chr8:g.47789159G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47789159G>T , CM000670.2:g.47789159G>T	GRCh38
NC_000008.10:g.48701720G>T , CM000670.1:g.48701720G>T	GRCh37
NC_000008.9:g.48864273G>T	NCBI36
NG_023435.1:g.176025C>A , LRG_162:g.176025C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697602.1:n.1323C>A
ENST00000697603.1:c.3427C>A	ENSP00000513358.1:p.Leu1143Ile
ENST00000314191.7:c.10750C>A MANE Select	ENSP00000313420.3:p.Leu3584Ile
ENST00000314191.6:c.10750C>A	ENSP00000313420.3:p.Leu3584Ile
ENST00000338368.7:c.10750C>A	ENSP00000345182.4:p.Leu3584Ile
NM_001081640.1:c.10750C>A	NP_001075109.1:p.Leu3584Ile
NM_006904.6:c.10750C>A , LRG_162t1:c.10750C>A	NP_008835.5:p.Leu3584Ile
XM_011517567.1:c.10753C>A	XP_011515869.1:p.Leu3585Ile
XM_011517568.1:c.10753C>A	XP_011515870.1:p.Leu3585Ile
NM_001081640.2:c.10750C>A	NP_001075109.1:p.Leu3584Ile
NM_006904.7:c.10750C>A MANE Select	NP_008835.5:p.Leu3584Ile