Canonical Allele Identifier: CA1781846311
Gene: PRKDC HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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