Canonical Allele Identifier: CA4740549

Gene: PRKDC

Linked Data

• ClinVar Variation Id: 1907204
• ClinVar RCV Id: RCV002578051
• dbSNP Id: rs369408804
• ExAC: 8:48774919 G / A
• gnomAD v2: 8-48774919-G-A
• gnomAD v3: 8-47862358-G-A
• gnomAD v4: 8-47862358-G-A
• MyVariant Identifiers: chr8:g.48774919G>A (hg19) ; chr8:g.47862358G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47862358G>A , CM000670.2:g.47862358G>A	GRCh38
NC_000008.10:g.48774919G>A , CM000670.1:g.48774919G>A	GRCh37
NC_000008.9:g.48937472G>A	NCBI36
NG_023435.1:g.102826C>T , LRG_162:g.102826C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000314191.7:c.5919+15C>T MANE Select	ENSP00000313420.3:n.5919+15C>T
ENST00000314191.6:c.5919+15C>T	ENSP00000313420.3:n.5919+15C>T
ENST00000338368.7:c.5919+15C>T	ENSP00000345182.4:n.5919+15C>T
NM_001081640.1:c.5919+15C>T	NP_001075109.1:n.5919+15C>T
NM_006904.6:c.5919+15C>T , LRG_162t1:c.5919+15C>T	NP_008835.5:n.5919+15C>T
XM_011517567.1:c.5919+15C>T	XP_011515869.1:n.5919+15C>T
XM_011517568.1:c.5919+15C>T	XP_011515870.1:n.5919+15C>T
NM_001081640.2:c.5919+15C>T	NP_001075109.1:n.5919+15C>T
NM_006904.7:c.5919+15C>T MANE Select	NP_008835.5:n.5919+15C>T