Canonical Allele Identifier: CA4739711

Gene: PRKDC

Linked Data

• ClinVar Variation Id: 475241
• ClinVar RCV Id: RCV000549280 ; RCV001755901
• dbSNP Id: rs369402631
• ExAC: 8:48736484 T / A
• gnomAD v2: 8-48736484-T-A
• gnomAD v3: 8-47823923-T-A
• gnomAD v4: 8-47823923-T-A
• MyVariant Identifiers: chr8:g.48736484T>A (hg19) ; chr8:g.47823923T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47823923T>A , CM000670.2:g.47823923T>A	GRCh38
NC_000008.10:g.48736484T>A , CM000670.1:g.48736484T>A	GRCh37
NC_000008.9:g.48899037T>A	NCBI36
NG_023435.1:g.141261A>T , LRG_162:g.141261A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697603.1:c.1534A>T	ENSP00000513358.1:p.Thr512Ser
ENST00000314191.7:c.8857A>T MANE Select	ENSP00000313420.3:p.Thr2953Ser
ENST00000314191.6:c.8857A>T	ENSP00000313420.3:p.Thr2953Ser
ENST00000338368.7:c.8857A>T	ENSP00000345182.4:p.Thr2953Ser
NM_001081640.1:c.8857A>T	NP_001075109.1:p.Thr2953Ser
NM_006904.6:c.8857A>T , LRG_162t1:c.8857A>T	NP_008835.5:p.Thr2953Ser
XM_011517567.1:c.8860A>T	XP_011515869.1:p.Thr2954Ser
XM_011517568.1:c.8860A>T	XP_011515870.1:p.Thr2954Ser
NM_001081640.2:c.8857A>T	NP_001075109.1:p.Thr2953Ser
NM_006904.7:c.8857A>T MANE Select	NP_008835.5:p.Thr2953Ser