Canonical Allele Identifier: CA371132177

Gene: PRKDC

Linked Data

• dbSNP Id: rs1207910844
• gnomAD v3: 8-47788991-A-G
• gnomAD v4: 8-47788991-A-G
• MyVariant Identifiers: chr8:g.48701552A>G (hg19) ; chr8:g.47788991A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47788991A>G , CM000670.2:g.47788991A>G	GRCh38
NC_000008.10:g.48701552A>G , CM000670.1:g.48701552A>G	GRCh37
NC_000008.9:g.48864105A>G	NCBI36
NG_023435.1:g.176193T>C , LRG_162:g.176193T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697602.1:n.1390T>C
ENST00000697603.1:c.3494T>C	ENSP00000513358.1:p.Ile1165Thr
ENST00000314191.7:c.10817T>C MANE Select	ENSP00000313420.3:p.Ile3606Thr
ENST00000314191.6:c.10817T>C	ENSP00000313420.3:p.Ile3606Thr
ENST00000338368.7:c.10817T>C	ENSP00000345182.4:p.Ile3606Thr
NM_001081640.1:c.10817T>C	NP_001075109.1:p.Ile3606Thr
NM_006904.6:c.10817T>C , LRG_162t1:c.10817T>C	NP_008835.5:p.Ile3606Thr
XM_011517567.1:c.10820T>C	XP_011515869.1:p.Ile3607Thr
XM_011517568.1:c.10820T>C	XP_011515870.1:p.Ile3607Thr
NM_001081640.2:c.10817T>C	NP_001075109.1:p.Ile3606Thr
NM_006904.7:c.10817T>C MANE Select	NP_008835.5:p.Ile3606Thr