Canonical Allele Identifier: CA176153914

Gene: PRKDC

Linked Data

• dbSNP Id: rs956456394
• gnomAD v2: 8-48872718-G-C
• gnomAD v4: 8-47960158-G-C
• MyVariant Identifiers: chr8:g.48872718G>C (hg19) ; chr8:g.47960158G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47960158G>C , CM000670.2:g.47960158G>C	GRCh38
NC_000008.10:g.48872718G>C , CM000670.1:g.48872718G>C	GRCh37
NC_000008.9:g.49035271G>C	NCBI36
NG_023435.1:g.5026C>G , LRG_162:g.5026C>G
NG_032967.1:g.4956G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697591.1:n.10C>G
ENST00000314191.6:c.-32C>G	ENSP00000313420.3:n.-32C>G
ENST00000338368.7:c.-32C>G	ENSP00000345182.4:n.-32C>G
NM_001081640.1:c.-32C>G	NP_001075109.1:n.-32C>G
NM_006904.6:c.-32C>G , LRG_162t1:c.-32C>G	NP_008835.5:n.-32C>G
XM_011517567.1:c.-32C>G	XP_011515869.1:n.-32C>G
XM_011517568.1:c.-32C>G	XP_011515870.1:n.-32C>G