Canonical Allele Identifier: CA371158252

Gene: PRKDC

Linked Data

• gnomAD v4: 8-47852750-C-A
• MyVariant Identifiers: chr8:g.48765311C>A (hg19) ; chr8:g.47852750C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47852750C>A , CM000670.2:g.47852750C>A	GRCh38
NC_000008.10:g.48765311C>A , CM000670.1:g.48765311C>A	GRCh37
NC_000008.9:g.48927864C>A	NCBI36
NG_023435.1:g.112434G>T , LRG_162:g.112434G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000314191.7:c.6928G>T MANE Select	ENSP00000313420.3:p.Val2310Leu
ENST00000314191.6:c.6928G>T	ENSP00000313420.3:p.Val2310Leu
ENST00000338368.7:c.6928G>T	ENSP00000345182.4:p.Val2310Leu
NM_001081640.1:c.6928G>T	NP_001075109.1:p.Val2310Leu
NM_006904.6:c.6928G>T , LRG_162t1:c.6928G>T	NP_008835.5:p.Val2310Leu
XM_011517567.1:c.6928G>T	XP_011515869.1:p.Val2310Leu
XM_011517568.1:c.6928G>T	XP_011515870.1:p.Val2310Leu
NM_001081640.2:c.6928G>T	NP_001075109.1:p.Val2310Leu
NM_006904.7:c.6928G>T MANE Select	NP_008835.5:p.Val2310Leu