Canonical Allele Identifier: CA4739264

Gene: PRKDC

Linked Data

• dbSNP Id: rs769409012
• ExAC: 8:48701721 C / G
• gnomAD v2: 8-48701721-C-G
• gnomAD v4: 8-47789160-C-G
• MyVariant Identifiers: chr8:g.48701721C>G (hg19) ; chr8:g.47789160C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47789160C>G , CM000670.2:g.47789160C>G	GRCh38
NC_000008.10:g.48701721C>G , CM000670.1:g.48701721C>G	GRCh37
NC_000008.9:g.48864274C>G	NCBI36
NG_023435.1:g.176024G>C , LRG_162:g.176024G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697602.1:n.1322G>C
ENST00000697603.1:c.3426G>C	ENSP00000513358.1:p.Leu1142=
ENST00000314191.7:c.10749G>C MANE Select	ENSP00000313420.3:p.Leu3583=
ENST00000314191.6:c.10749G>C	ENSP00000313420.3:p.Leu3583=
ENST00000338368.7:c.10749G>C	ENSP00000345182.4:p.Leu3583=
NM_001081640.1:c.10749G>C	NP_001075109.1:p.Leu3583=
NM_006904.6:c.10749G>C , LRG_162t1:c.10749G>C	NP_008835.5:p.Leu3583=
XM_011517567.1:c.10752G>C	XP_011515869.1:p.Leu3584=
XM_011517568.1:c.10752G>C	XP_011515870.1:p.Leu3584=
NM_001081640.2:c.10749G>C	NP_001075109.1:p.Leu3583=
NM_006904.7:c.10749G>C MANE Select	NP_008835.5:p.Leu3583=