Canonical Allele Identifier: CA2687209216

Gene: PRKDC

Linked Data

• gnomAD v4: 8-47960130-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47960130G>T , CM000670.2:g.47960130G>T	GRCh38
NC_000008.10:g.48872690G>T , CM000670.1:g.48872690G>T	GRCh37
NC_000008.9:g.49035243G>T	NCBI36
NG_023435.1:g.5054C>A , LRG_162:g.5054C>A
NG_032967.1:g.4928G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697591.1:n.38C>A
ENST00000314191.7:c.-4C>A MANE Select	ENSP00000313420.3:n.-4C>A
ENST00000314191.6:c.-4C>A	ENSP00000313420.3:n.-4C>A
ENST00000338368.7:c.-4C>A	ENSP00000345182.4:n.-4C>A
NM_001081640.1:c.-4C>A	NP_001075109.1:n.-4C>A
NM_006904.6:c.-4C>A , LRG_162t1:c.-4C>A	NP_008835.5:n.-4C>A
XM_011517567.1:c.-4C>A	XP_011515869.1:n.-4C>A
XM_011517568.1:c.-4C>A	XP_011515870.1:n.-4C>A
NM_001081640.2:c.-4C>A	NP_001075109.1:n.-4C>A
NM_006904.7:c.-4C>A MANE Select	NP_008835.5:n.-4C>A