Canonical Allele Identifier: CA2687202179
Gene: PRKDC HGNC NCBI

Linked Data

gnomAD v4: 8-47862276-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47862276A>T , CM000670.2:g.47862276A>T GRCh38
NC_000008.10:g.48774837A>T , CM000670.1:g.48774837A>T GRCh37
NC_000008.9:g.48937390A>T NCBI36
NG_023435.1:g.102908T>A , LRG_162:g.102908T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000314191.7:c.5919+97T>A MANE Select ENSP00000313420.3:n.5919+97T>A
ENST00000314191.6:c.5919+97T>A ENSP00000313420.3:n.5919+97T>A
ENST00000338368.7:c.5919+97T>A ENSP00000345182.4:n.5919+97T>A
NM_001081640.1:c.5919+97T>A NP_001075109.1:n.5919+97T>A
NM_006904.6:c.5919+97T>A , LRG_162t1:c.5919+97T>A NP_008835.5:n.5919+97T>A
XM_011517567.1:c.5919+97T>A XP_011515869.1:n.5919+97T>A
XM_011517568.1:c.5919+97T>A XP_011515870.1:n.5919+97T>A
NM_001081640.2:c.5919+97T>A NP_001075109.1:n.5919+97T>A
NM_006904.7:c.5919+97T>A MANE Select NP_008835.5:n.5919+97T>A
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