Canonical Allele Identifier: CA460607477
Gene: PRKDC HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.48774934C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47862373C>T , CM000670.2:g.47862373C>T GRCh38
NC_000008.10:g.48774934C>T , CM000670.1:g.48774934C>T GRCh37
NC_000008.9:g.48937487C>T NCBI36
NG_023435.1:g.102811G>A , LRG_162:g.102811G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000314191.7:c.5919G>A MANE Select ENSP00000313420.3:p.Lys1973=
ENST00000314191.6:c.5919G>A ENSP00000313420.3:p.Lys1973=
ENST00000338368.7:c.5919G>A ENSP00000345182.4:p.Lys1973=
ENST00000546304.1:n.585G>A
NM_001081640.1:c.5919G>A NP_001075109.1:p.Lys1973=
NM_006904.6:c.5919G>A , LRG_162t1:c.5919G>A NP_008835.5:p.Lys1973=
XM_011517567.1:c.5919G>A XP_011515869.1:p.Lys1973=
XM_011517568.1:c.5919G>A XP_011515870.1:p.Lys1973=
NM_001081640.2:c.5919G>A NP_001075109.1:p.Lys1973=
NM_006904.7:c.5919G>A MANE Select NP_008835.5:p.Lys1973=