Canonical Allele Identifier: CA371162569

Gene: PRKDC

Linked Data

• MyVariant Identifiers: chr8:g.48775072C>T (hg19) ; chr8:g.47862511C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47862511C>T , CM000670.2:g.47862511C>T	GRCh38
NC_000008.10:g.48775072C>T , CM000670.1:g.48775072C>T	GRCh37
NC_000008.9:g.48937625C>T	NCBI36
NG_023435.1:g.102673G>A , LRG_162:g.102673G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314191.7:c.5781G>A MANE Select	ENSP00000313420.3:p.Met1927Ile
ENST00000314191.6:c.5781G>A	ENSP00000313420.3:p.Met1927Ile
ENST00000338368.7:c.5781G>A	ENSP00000345182.4:p.Met1927Ile
ENST00000546304.1:n.447G>A
NM_001081640.1:c.5781G>A	NP_001075109.1:p.Met1927Ile
NM_006904.6:c.5781G>A , LRG_162t1:c.5781G>A	NP_008835.5:p.Met1927Ile
XM_011517567.1:c.5781G>A	XP_011515869.1:p.Met1927Ile
XM_011517568.1:c.5781G>A	XP_011515870.1:p.Met1927Ile
NM_001081640.2:c.5781G>A	NP_001075109.1:p.Met1927Ile
NM_006904.7:c.5781G>A MANE Select	NP_008835.5:p.Met1927Ile