Canonical Allele Identifier: CA4739229

Gene: PRKDC

Linked Data

• dbSNP Id: rs369496484
• ExAC: 8:48701496 G / A
• gnomAD v2: 8-48701496-G-A
• gnomAD v4: 8-47788935-G-A
• MyVariant Identifiers: chr8:g.48701496G>A (hg19) ; chr8:g.47788935G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47788935G>A , CM000670.2:g.47788935G>A	GRCh38
NC_000008.10:g.48701496G>A , CM000670.1:g.48701496G>A	GRCh37
NC_000008.9:g.48864049G>A	NCBI36
NG_023435.1:g.176249C>T , LRG_162:g.176249C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697602.1:n.1446C>T
ENST00000697603.1:c.3550C>T	ENSP00000513358.1:p.Leu1184=
ENST00000314191.7:c.10873C>T MANE Select	ENSP00000313420.3:p.Leu3625=
ENST00000314191.6:c.10873C>T	ENSP00000313420.3:p.Leu3625=
ENST00000338368.7:c.10873C>T	ENSP00000345182.4:p.Leu3625=
NM_001081640.1:c.10873C>T	NP_001075109.1:p.Leu3625=
NM_006904.6:c.10873C>T , LRG_162t1:c.10873C>T	NP_008835.5:p.Leu3625=
XM_011517567.1:c.10876C>T	XP_011515869.1:p.Leu3626=
XM_011517568.1:c.10876C>T	XP_011515870.1:p.Leu3626=
NM_001081640.2:c.10873C>T	NP_001075109.1:p.Leu3625=
NM_006904.7:c.10873C>T MANE Select	NP_008835.5:p.Leu3625=