Canonical Allele Identifier: CA371158248
Gene: PRKDC HGNC NCBI

Linked Data

gnomAD v4: 8-47852749-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47852749A>G , CM000670.2:g.47852749A>G GRCh38
NC_000008.10:g.48765310A>G , CM000670.1:g.48765310A>G GRCh37
NC_000008.9:g.48927863A>G NCBI36
NG_023435.1:g.112435T>C , LRG_162:g.112435T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000314191.7:c.6929T>C MANE Select ENSP00000313420.3:p.Val2310Ala
ENST00000314191.6:c.6929T>C ENSP00000313420.3:p.Val2310Ala
ENST00000338368.7:c.6929T>C ENSP00000345182.4:p.Val2310Ala
NM_001081640.1:c.6929T>C NP_001075109.1:p.Val2310Ala
NM_006904.6:c.6929T>C , LRG_162t1:c.6929T>C NP_008835.5:p.Val2310Ala
XM_011517567.1:c.6929T>C XP_011515869.1:p.Val2310Ala
XM_011517568.1:c.6929T>C XP_011515870.1:p.Val2310Ala
NM_001081640.2:c.6929T>C NP_001075109.1:p.Val2310Ala
NM_006904.7:c.6929T>C MANE Select NP_008835.5:p.Val2310Ala