Canonical Allele Identifier: CA371136994

Gene: PRKDC

Linked Data

• gnomAD v4: 8-47817470-C-T
• MyVariant Identifiers: chr8:g.48730031C>T (hg19) ; chr8:g.47817470C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47817470C>T , CM000670.2:g.47817470C>T	GRCh38
NC_000008.10:g.48730031C>T , CM000670.1:g.48730031C>T	GRCh37
NC_000008.9:g.48892584C>T	NCBI36
NG_023435.1:g.147714G>A , LRG_162:g.147714G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697603.1:c.2214G>A	ENSP00000513358.1:p.Trp738Ter
ENST00000697607.1:n.1069G>A
ENST00000314191.7:c.9537G>A MANE Select	ENSP00000313420.3:p.Trp3179Ter
ENST00000314191.6:c.9537G>A	ENSP00000313420.3:p.Trp3179Ter
ENST00000338368.7:c.9537G>A	ENSP00000345182.4:p.Trp3179Ter
NM_001081640.1:c.9537G>A	NP_001075109.1:p.Trp3179Ter
NM_006904.6:c.9537G>A , LRG_162t1:c.9537G>A	NP_008835.5:p.Trp3179Ter
XM_011517567.1:c.9540G>A	XP_011515869.1:p.Trp3180Ter
XM_011517568.1:c.9540G>A	XP_011515870.1:p.Trp3180Ter
NM_001081640.2:c.9537G>A	NP_001075109.1:p.Trp3179Ter
NM_006904.7:c.9537G>A MANE Select	NP_008835.5:p.Trp3179Ter