Canonical Allele Identifier: CA371162678

Gene: PRKDC

Linked Data

• MyVariant Identifiers: chr8:g.48775100A>G (hg19) ; chr8:g.47862539A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47862539A>G , CM000670.2:g.47862539A>G	GRCh38
NC_000008.10:g.48775100A>G , CM000670.1:g.48775100A>G	GRCh37
NC_000008.9:g.48937653A>G	NCBI36
NG_023435.1:g.102645T>C , LRG_162:g.102645T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314191.7:c.5753T>C MANE Select	ENSP00000313420.3:p.Leu1918Ser
ENST00000314191.6:c.5753T>C	ENSP00000313420.3:p.Leu1918Ser
ENST00000338368.7:c.5753T>C	ENSP00000345182.4:p.Leu1918Ser
ENST00000546304.1:n.419T>C
NM_001081640.1:c.5753T>C	NP_001075109.1:p.Leu1918Ser
NM_006904.6:c.5753T>C , LRG_162t1:c.5753T>C	NP_008835.5:p.Leu1918Ser
XM_011517567.1:c.5753T>C	XP_011515869.1:p.Leu1918Ser
XM_011517568.1:c.5753T>C	XP_011515870.1:p.Leu1918Ser
NM_001081640.2:c.5753T>C	NP_001075109.1:p.Leu1918Ser
NM_006904.7:c.5753T>C MANE Select	NP_008835.5:p.Leu1918Ser