Canonical Allele Identifier: CA371132116

Gene: PRKDC

Linked Data

• MyVariant Identifiers: chr8:g.48701528T>A (hg19) ; chr8:g.47788967T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47788967T>A , CM000670.2:g.47788967T>A	GRCh38
NC_000008.10:g.48701528T>A , CM000670.1:g.48701528T>A	GRCh37
NC_000008.9:g.48864081T>A	NCBI36
NG_023435.1:g.176217A>T , LRG_162:g.176217A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697602.1:n.1414A>T
ENST00000697603.1:c.3518A>T	ENSP00000513358.1:p.Tyr1173Phe
ENST00000314191.7:c.10841A>T MANE Select	ENSP00000313420.3:p.Tyr3614Phe
ENST00000314191.6:c.10841A>T	ENSP00000313420.3:p.Tyr3614Phe
ENST00000338368.7:c.10841A>T	ENSP00000345182.4:p.Tyr3614Phe
NM_001081640.1:c.10841A>T	NP_001075109.1:p.Tyr3614Phe
NM_006904.6:c.10841A>T , LRG_162t1:c.10841A>T	NP_008835.5:p.Tyr3614Phe
XM_011517567.1:c.10844A>T	XP_011515869.1:p.Tyr3615Phe
XM_011517568.1:c.10844A>T	XP_011515870.1:p.Tyr3615Phe
NM_001081640.2:c.10841A>T	NP_001075109.1:p.Tyr3614Phe
NM_006904.7:c.10841A>T MANE Select	NP_008835.5:p.Tyr3614Phe