Canonical Allele Identifier: CA371137022

Gene: PRKDC

Linked Data

• gnomAD v4: 8-47817479-C-A
• MyVariant Identifiers: chr8:g.48730040C>A (hg19) ; chr8:g.47817479C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47817479C>A , CM000670.2:g.47817479C>A	GRCh38
NC_000008.10:g.48730040C>A , CM000670.1:g.48730040C>A	GRCh37
NC_000008.9:g.48892593C>A	NCBI36
NG_023435.1:g.147705G>T , LRG_162:g.147705G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697603.1:c.2205G>T	ENSP00000513358.1:p.Met735Ile
ENST00000697607.1:n.1060G>T
ENST00000314191.7:c.9528G>T MANE Select	ENSP00000313420.3:p.Met3176Ile
ENST00000314191.6:c.9528G>T	ENSP00000313420.3:p.Met3176Ile
ENST00000338368.7:c.9528G>T	ENSP00000345182.4:p.Met3176Ile
NM_001081640.1:c.9528G>T	NP_001075109.1:p.Met3176Ile
NM_006904.6:c.9528G>T , LRG_162t1:c.9528G>T	NP_008835.5:p.Met3176Ile
XM_011517567.1:c.9531G>T	XP_011515869.1:p.Met3177Ile
XM_011517568.1:c.9531G>T	XP_011515870.1:p.Met3177Ile
NM_001081640.2:c.9528G>T	NP_001075109.1:p.Met3176Ile
NM_006904.7:c.9528G>T MANE Select	NP_008835.5:p.Met3176Ile