Canonical Allele Identifier: CA2687209287
Gene: PRKDC HGNC NCBI

Linked Data

gnomAD v4: 8-47960163-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47960163G>T , CM000670.2:g.47960163G>T GRCh38
NC_000008.10:g.48872723G>T , CM000670.1:g.48872723G>T GRCh37
NC_000008.9:g.49035276G>T NCBI36
NG_023435.1:g.5021C>A , LRG_162:g.5021C>A
NG_032967.1:g.4961G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697591.1:n.5C>A
ENST00000314191.6:c.-37C>A ENSP00000313420.3:n.-37C>A
ENST00000338368.7:c.-37C>A ENSP00000345182.4:n.-37C>A
NM_001081640.1:c.-37C>A NP_001075109.1:n.-37C>A
NM_006904.6:c.-37C>A , LRG_162t1:c.-37C>A NP_008835.5:n.-37C>A