Canonical Allele Identifier: CA4740546
Gene: PRKDC HGNC NCBI

Linked Data

dbSNP Id: rs374179695
ExAC: 8:48774915 C / T
gnomAD v2: 8-48774915-C-T
gnomAD v4: 8-47862354-C-T
MyVariant Identifiers: chr8:g.48774915C>T (hg19) chr8:g.47862354C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47862354C>T , CM000670.2:g.47862354C>T GRCh38
NC_000008.10:g.48774915C>T , CM000670.1:g.48774915C>T GRCh37
NC_000008.9:g.48937468C>T NCBI36
NG_023435.1:g.102830G>A , LRG_162:g.102830G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000314191.7:c.5919+19G>A MANE Select ENSP00000313420.3:n.5919+19G>A
ENST00000314191.6:c.5919+19G>A ENSP00000313420.3:n.5919+19G>A
ENST00000338368.7:c.5919+19G>A ENSP00000345182.4:n.5919+19G>A
NM_001081640.1:c.5919+19G>A NP_001075109.1:n.5919+19G>A
NM_006904.6:c.5919+19G>A , LRG_162t1:c.5919+19G>A NP_008835.5:n.5919+19G>A
XM_011517567.1:c.5919+19G>A XP_011515869.1:n.5919+19G>A
XM_011517568.1:c.5919+19G>A XP_011515870.1:n.5919+19G>A
NM_001081640.2:c.5919+19G>A NP_001075109.1:n.5919+19G>A
NM_006904.7:c.5919+19G>A MANE Select NP_008835.5:n.5919+19G>A
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