Canonical Allele Identifier: CA371132049

Gene: PRKDC

Linked Data

• dbSNP Id: rs750244294
• gnomAD v3: 8-47788934-A-C
• gnomAD v4: 8-47788934-A-C
• MyVariant Identifiers: chr8:g.48701495A>C (hg19) ; chr8:g.47788934A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47788934A>C , CM000670.2:g.47788934A>C	GRCh38
NC_000008.10:g.48701495A>C , CM000670.1:g.48701495A>C	GRCh37
NC_000008.9:g.48864048A>C	NCBI36
NG_023435.1:g.176250T>G , LRG_162:g.176250T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697602.1:n.1447T>G
ENST00000697603.1:c.3551T>G	ENSP00000513358.1:p.Leu1184Arg
ENST00000314191.7:c.10874T>G MANE Select	ENSP00000313420.3:p.Leu3625Arg
ENST00000314191.6:c.10874T>G	ENSP00000313420.3:p.Leu3625Arg
ENST00000338368.7:c.10874T>G	ENSP00000345182.4:p.Leu3625Arg
NM_001081640.1:c.10874T>G	NP_001075109.1:p.Leu3625Arg
NM_006904.6:c.10874T>G , LRG_162t1:c.10874T>G	NP_008835.5:p.Leu3625Arg
XM_011517567.1:c.10877T>G	XP_011515869.1:p.Leu3626Arg
XM_011517568.1:c.10877T>G	XP_011515870.1:p.Leu3626Arg
NM_001081640.2:c.10874T>G	NP_001075109.1:p.Leu3625Arg
NM_006904.7:c.10874T>G MANE Select	NP_008835.5:p.Leu3625Arg