Canonical Allele Identifier: CA371137002

Gene: PRKDC

Linked Data

• ClinVar Variation Id: 2134550
• ClinVar RCV Id: RCV003065907
• MyVariant Identifiers: chr8:g.48730035A>C (hg19) ; chr8:g.47817474A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47817474A>C , CM000670.2:g.47817474A>C	GRCh38
NC_000008.10:g.48730035A>C , CM000670.1:g.48730035A>C	GRCh37
NC_000008.9:g.48892588A>C	NCBI36
NG_023435.1:g.147710T>G , LRG_162:g.147710T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697603.1:c.2210T>G	ENSP00000513358.1:p.Ile737Ser
ENST00000697607.1:n.1065T>G
ENST00000314191.7:c.9533T>G MANE Select	ENSP00000313420.3:p.Ile3178Ser
ENST00000314191.6:c.9533T>G	ENSP00000313420.3:p.Ile3178Ser
ENST00000338368.7:c.9533T>G	ENSP00000345182.4:p.Ile3178Ser
NM_001081640.1:c.9533T>G	NP_001075109.1:p.Ile3178Ser
NM_006904.6:c.9533T>G , LRG_162t1:c.9533T>G	NP_008835.5:p.Ile3178Ser
XM_011517567.1:c.9536T>G	XP_011515869.1:p.Ile3179Ser
XM_011517568.1:c.9536T>G	XP_011515870.1:p.Ile3179Ser
NM_001081640.2:c.9533T>G	NP_001075109.1:p.Ile3178Ser
NM_006904.7:c.9533T>G MANE Select	NP_008835.5:p.Ile3178Ser