Canonical Allele Identifier: CA371132081

Gene: PRKDC

Linked Data

• gnomAD v4: 8-47788950-G-C
• MyVariant Identifiers: chr8:g.48701511G>C (hg19) ; chr8:g.47788950G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47788950G>C , CM000670.2:g.47788950G>C	GRCh38
NC_000008.10:g.48701511G>C , CM000670.1:g.48701511G>C	GRCh37
NC_000008.9:g.48864064G>C	NCBI36
NG_023435.1:g.176234C>G , LRG_162:g.176234C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697602.1:n.1431C>G
ENST00000697603.1:c.3535C>G	ENSP00000513358.1:p.Pro1179Ala
ENST00000314191.7:c.10858C>G MANE Select	ENSP00000313420.3:p.Pro3620Ala
ENST00000314191.6:c.10858C>G	ENSP00000313420.3:p.Pro3620Ala
ENST00000338368.7:c.10858C>G	ENSP00000345182.4:p.Pro3620Ala
NM_001081640.1:c.10858C>G	NP_001075109.1:p.Pro3620Ala
NM_006904.6:c.10858C>G , LRG_162t1:c.10858C>G	NP_008835.5:p.Pro3620Ala
XM_011517567.1:c.10861C>G	XP_011515869.1:p.Pro3621Ala
XM_011517568.1:c.10861C>G	XP_011515870.1:p.Pro3621Ala
NM_001081640.2:c.10858C>G	NP_001075109.1:p.Pro3620Ala
NM_006904.7:c.10858C>G MANE Select	NP_008835.5:p.Pro3620Ala