Canonical Allele Identifier: CA460607632
Gene: PRKDC HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.48775087T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47862526T>A , CM000670.2:g.47862526T>A GRCh38
NC_000008.10:g.48775087T>A , CM000670.1:g.48775087T>A GRCh37
NC_000008.9:g.48937640T>A NCBI36
NG_023435.1:g.102658A>T , LRG_162:g.102658A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000314191.7:c.5766A>T MANE Select ENSP00000313420.3:p.Ala1922=
ENST00000314191.6:c.5766A>T ENSP00000313420.3:p.Ala1922=
ENST00000338368.7:c.5766A>T ENSP00000345182.4:p.Ala1922=
ENST00000546304.1:n.432A>T
NM_001081640.1:c.5766A>T NP_001075109.1:p.Ala1922=
NM_006904.6:c.5766A>T , LRG_162t1:c.5766A>T NP_008835.5:p.Ala1922=
XM_011517567.1:c.5766A>T XP_011515869.1:p.Ala1922=
XM_011517568.1:c.5766A>T XP_011515870.1:p.Ala1922=
NM_001081640.2:c.5766A>T NP_001075109.1:p.Ala1922=
NM_006904.7:c.5766A>T MANE Select NP_008835.5:p.Ala1922=