Canonical Allele Identifier: CA371162422

Gene: PRKDC

Linked Data

• gnomAD v4: 8-47862471-G-A
• MyVariant Identifiers: chr8:g.48775032G>A (hg19) ; chr8:g.47862471G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47862471G>A , CM000670.2:g.47862471G>A	GRCh38
NC_000008.10:g.48775032G>A , CM000670.1:g.48775032G>A	GRCh37
NC_000008.9:g.48937585G>A	NCBI36
NG_023435.1:g.102713C>T , LRG_162:g.102713C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314191.7:c.5821C>T MANE Select	ENSP00000313420.3:p.His1941Tyr
ENST00000314191.6:c.5821C>T	ENSP00000313420.3:p.His1941Tyr
ENST00000338368.7:c.5821C>T	ENSP00000345182.4:p.His1941Tyr
ENST00000546304.1:n.487C>T
NM_001081640.1:c.5821C>T	NP_001075109.1:p.His1941Tyr
NM_006904.6:c.5821C>T , LRG_162t1:c.5821C>T	NP_008835.5:p.His1941Tyr
XM_011517567.1:c.5821C>T	XP_011515869.1:p.His1941Tyr
XM_011517568.1:c.5821C>T	XP_011515870.1:p.His1941Tyr
NM_001081640.2:c.5821C>T	NP_001075109.1:p.His1941Tyr
NM_006904.7:c.5821C>T MANE Select	NP_008835.5:p.His1941Tyr