Canonical Allele Identifier: CA460603892
Gene: PRKDC HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.48701569A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47789008A>C , CM000670.2:g.47789008A>C GRCh38
NC_000008.10:g.48701569A>C , CM000670.1:g.48701569A>C GRCh37
NC_000008.9:g.48864122A>C NCBI36
NG_023435.1:g.176176T>G , LRG_162:g.176176T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697602.1:n.1373T>G
ENST00000697603.1:c.3477T>G ENSP00000513358.1:p.Pro1159=
ENST00000314191.7:c.10800T>G MANE Select ENSP00000313420.3:p.Pro3600=
ENST00000314191.6:c.10800T>G ENSP00000313420.3:p.Pro3600=
ENST00000338368.7:c.10800T>G ENSP00000345182.4:p.Pro3600=
NM_001081640.1:c.10800T>G NP_001075109.1:p.Pro3600=
NM_006904.6:c.10800T>G , LRG_162t1:c.10800T>G NP_008835.5:p.Pro3600=
XM_011517567.1:c.10803T>G XP_011515869.1:p.Pro3601=
XM_011517568.1:c.10803T>G XP_011515870.1:p.Pro3601=
NM_001081640.2:c.10800T>G NP_001075109.1:p.Pro3600=
NM_006904.7:c.10800T>G MANE Select NP_008835.5:p.Pro3600=