Canonical Allele Identifier: CA460606231

Gene: PRKDC

Linked Data

• gnomAD v4: 8-47852754-G-C
• MyVariant Identifiers: chr8:g.48765315G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47852754G>C , CM000670.2:g.47852754G>C	GRCh38
NC_000008.10:g.48765315G>C , CM000670.1:g.48765315G>C	GRCh37
NC_000008.9:g.48927868G>C	NCBI36
NG_023435.1:g.112430C>G , LRG_162:g.112430C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000314191.7:c.6924C>G MANE Select	ENSP00000313420.3:p.Ser2308=
ENST00000314191.6:c.6924C>G	ENSP00000313420.3:p.Ser2308=
ENST00000338368.7:c.6924C>G	ENSP00000345182.4:p.Ser2308=
NM_001081640.1:c.6924C>G	NP_001075109.1:p.Ser2308=
NM_006904.6:c.6924C>G , LRG_162t1:c.6924C>G	NP_008835.5:p.Ser2308=
XM_011517567.1:c.6924C>G	XP_011515869.1:p.Ser2308=
XM_011517568.1:c.6924C>G	XP_011515870.1:p.Ser2308=
NM_001081640.2:c.6924C>G	NP_001075109.1:p.Ser2308=
NM_006904.7:c.6924C>G MANE Select	NP_008835.5:p.Ser2308=