Canonical Allele Identifier: CA460603920

Gene: PRKDC

Linked Data

• dbSNP Id: rs2086839852
• MyVariant Identifiers: chr8:g.48701587A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47789026A>G , CM000670.2:g.47789026A>G	GRCh38
NC_000008.10:g.48701587A>G , CM000670.1:g.48701587A>G	GRCh37
NC_000008.9:g.48864140A>G	NCBI36
NG_023435.1:g.176158T>C , LRG_162:g.176158T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697602.1:n.1355T>C
ENST00000697603.1:c.3459T>C	ENSP00000513358.1:p.Ala1153=
ENST00000314191.7:c.10782T>C MANE Select	ENSP00000313420.3:p.Ala3594=
ENST00000314191.6:c.10782T>C	ENSP00000313420.3:p.Ala3594=
ENST00000338368.7:c.10782T>C	ENSP00000345182.4:p.Ala3594=
NM_001081640.1:c.10782T>C	NP_001075109.1:p.Ala3594=
NM_006904.6:c.10782T>C , LRG_162t1:c.10782T>C	NP_008835.5:p.Ala3594=
XM_011517567.1:c.10785T>C	XP_011515869.1:p.Ala3595=
XM_011517568.1:c.10785T>C	XP_011515870.1:p.Ala3595=
NM_001081640.2:c.10782T>C	NP_001075109.1:p.Ala3594=
NM_006904.7:c.10782T>C MANE Select	NP_008835.5:p.Ala3594=