Canonical Allele Identifier: CA2687200466
Gene: PRKDC HGNC NCBI

Linked Data

gnomAD v4: 8-47852667-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47852667A>G , CM000670.2:g.47852667A>G GRCh38
NC_000008.10:g.48765228A>G , CM000670.1:g.48765228A>G GRCh37
NC_000008.9:g.48927781A>G NCBI36
NG_023435.1:g.112517T>C , LRG_162:g.112517T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000314191.7:c.7005+6T>C MANE Select ENSP00000313420.3:n.7005+6T>C
ENST00000314191.6:c.7005+6T>C ENSP00000313420.3:n.7005+6T>C
ENST00000338368.7:c.7005+6T>C ENSP00000345182.4:n.7005+6T>C
NM_001081640.1:c.7005+6T>C NP_001075109.1:n.7005+6T>C
NM_006904.6:c.7005+6T>C , LRG_162t1:c.7005+6T>C NP_008835.5:n.7005+6T>C
XM_011517567.1:c.7005+6T>C XP_011515869.1:n.7005+6T>C
XM_011517568.1:c.7005+6T>C XP_011515870.1:n.7005+6T>C
NM_001081640.2:c.7005+6T>C NP_001075109.1:n.7005+6T>C
NM_006904.7:c.7005+6T>C MANE Select NP_008835.5:n.7005+6T>C
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