Canonical Allele Identifier: CA10602243

Gene: POLG

Linked Data

• ClinVar Variation Id: 619302
• ClinVar RCV Id: RCV000758265 ; RCV000992686
• dbSNP Id: rs1567186613
• gnomAD v4: 15-89320919-C-T
• COSMIC: COSM5850036
• MyVariant Identifiers: chr15:g.89864150C>T (hg19) ; chr15:g.89320919C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320919C>T , CM000677.2:g.89320919C>T	GRCh38
NC_000015.9:g.89864150C>T , CM000677.1:g.89864150C>T	GRCh37
NC_000015.8:g.87665154C>T	NCBI36
NG_008218.1:g.18877G>A
NG_008218.2:g.18877G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2828G>A	ENSP00000516154.1:p.Arg943His
ENST00000268124.11:c.2828G>A MANE Select	ENSP00000268124.5:p.Arg943His
ENST00000530292.3:c.2429G>A	ENSP00000432885.2:p.Arg810His
ENST00000635986.2:c.2828G>A	ENSP00000490653.2:p.Arg943His
ENST00000636774.1:c.*1395G>A	ENSP00000489799.1:n.*1395G>A
ENST00000637238.1:c.1637G>A	ENSP00000490756.1:n.1637G>A
ENST00000637264.1:c.1900G>A
ENST00000666746.1:c.2405G>A
ENST00000670281.1:c.800+1043G>A	ENSP00000499709.1:n.800+1043G>A
ENST00000672071.1:n.3026G>A
ENST00000672695.1:n.5G>A
ENST00000672923.2:n.2770G>A
ENST00000268124.9:c.2828G>A	ENSP00000268124.5:p.Arg943His
ENST00000442287.6:c.2828G>A	ENSP00000399851.2:p.Arg943His
ENST00000528881.2:c.425G>A
ENST00000530715.5:c.186-50G>A	ENSP00000431395.1:n.186-50G>A
ENST00000631044.2:c.*2252G>A	ENSP00000486730.1:n.*2252G>A
NM_001126131.1:c.2828G>A	NP_001119603.1:p.Arg943His
NM_002693.2:c.2828G>A	NP_002684.1:p.Arg943His
NM_001126131.2:c.2828G>A	NP_001119603.1:p.Arg943His
NM_002693.3:c.2828G>A MANE Select	NP_002684.1:p.Arg943His