Canonical Allele Identifier: CA371158261

Gene: PRKDC

Linked Data

• ClinVar Variation Id: 1756180
• ClinVar RCV Id: RCV002378114
• gnomAD v4: 8-47852755-G-A
• MyVariant Identifiers: chr8:g.48765316G>A (hg19) ; chr8:g.47852755G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47852755G>A , CM000670.2:g.47852755G>A	GRCh38
NC_000008.10:g.48765316G>A , CM000670.1:g.48765316G>A	GRCh37
NC_000008.9:g.48927869G>A	NCBI36
NG_023435.1:g.112429C>T , LRG_162:g.112429C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000314191.7:c.6923C>T MANE Select	ENSP00000313420.3:p.Ser2308Phe
ENST00000314191.6:c.6923C>T	ENSP00000313420.3:p.Ser2308Phe
ENST00000338368.7:c.6923C>T	ENSP00000345182.4:p.Ser2308Phe
NM_001081640.1:c.6923C>T	NP_001075109.1:p.Ser2308Phe
NM_006904.6:c.6923C>T , LRG_162t1:c.6923C>T	NP_008835.5:p.Ser2308Phe
XM_011517567.1:c.6923C>T	XP_011515869.1:p.Ser2308Phe
XM_011517568.1:c.6923C>T	XP_011515870.1:p.Ser2308Phe
NM_001081640.2:c.6923C>T	NP_001075109.1:p.Ser2308Phe
NM_006904.7:c.6923C>T MANE Select	NP_008835.5:p.Ser2308Phe