Canonical Allele Identifier: CA581653103

Gene: PRKDC

Linked Data

• dbSNP Id: rs1362033202
• gnomAD v2: 8-48701687-G-A
• gnomAD v4: 8-47789126-G-A
• MyVariant Identifiers: chr8:g.48701687G>A (hg19) ; chr8:g.47789126G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47789126G>A , CM000670.2:g.47789126G>A	GRCh38
NC_000008.10:g.48701687G>A , CM000670.1:g.48701687G>A	GRCh37
NC_000008.9:g.48864240G>A	NCBI36
NG_023435.1:g.176058C>T , LRG_162:g.176058C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697602.1:n.1331+25C>T
ENST00000697603.1:c.3435+25C>T	ENSP00000513358.1:n.3435+25C>T
ENST00000314191.7:c.10758+25C>T MANE Select	ENSP00000313420.3:n.10758+25C>T
ENST00000314191.6:c.10758+25C>T	ENSP00000313420.3:n.10758+25C>T
ENST00000338368.7:c.10758+25C>T	ENSP00000345182.4:n.10758+25C>T
NM_001081640.1:c.10758+25C>T	NP_001075109.1:n.10758+25C>T
NM_006904.6:c.10758+25C>T , LRG_162t1:c.10758+25C>T	NP_008835.5:n.10758+25C>T
XM_011517567.1:c.10761+25C>T	XP_011515869.1:n.10761+25C>T
XM_011517568.1:c.10761+25C>T	XP_011515870.1:n.10761+25C>T
NM_001081640.2:c.10758+25C>T	NP_001075109.1:n.10758+25C>T
NM_006904.7:c.10758+25C>T MANE Select	NP_008835.5:n.10758+25C>T