Canonical Allele Identifier: CA371132077

Gene: PRKDC

Linked Data

• gnomAD v4: 8-47788949-G-A
• MyVariant Identifiers: chr8:g.48701510G>A (hg19) ; chr8:g.47788949G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47788949G>A , CM000670.2:g.47788949G>A	GRCh38
NC_000008.10:g.48701510G>A , CM000670.1:g.48701510G>A	GRCh37
NC_000008.9:g.48864063G>A	NCBI36
NG_023435.1:g.176235C>T , LRG_162:g.176235C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697602.1:n.1432C>T
ENST00000697603.1:c.3536C>T	ENSP00000513358.1:p.Pro1179Leu
ENST00000314191.7:c.10859C>T MANE Select	ENSP00000313420.3:p.Pro3620Leu
ENST00000314191.6:c.10859C>T	ENSP00000313420.3:p.Pro3620Leu
ENST00000338368.7:c.10859C>T	ENSP00000345182.4:p.Pro3620Leu
NM_001081640.1:c.10859C>T	NP_001075109.1:p.Pro3620Leu
NM_006904.6:c.10859C>T , LRG_162t1:c.10859C>T	NP_008835.5:p.Pro3620Leu
XM_011517567.1:c.10862C>T	XP_011515869.1:p.Pro3621Leu
XM_011517568.1:c.10862C>T	XP_011515870.1:p.Pro3621Leu
NM_001081640.2:c.10859C>T	NP_001075109.1:p.Pro3620Leu
NM_006904.7:c.10859C>T MANE Select	NP_008835.5:p.Pro3620Leu