Canonical Allele Identifier: CA316705

Gene: POLG

Linked Data

• ClinVar Variation Id: 206530
• ClinVar RCV Id: RCV000188584
• dbSNP Id: rs796052889
• MyVariant Identifiers: chr15:g.89865004G>T (hg19) ; chr15:g.89321773G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321773G>T , CM000677.2:g.89321773G>T	GRCh38
NC_000015.9:g.89865004G>T , CM000677.1:g.89865004G>T	GRCh37
NC_000015.8:g.87666008G>T	NCBI36
NG_008218.1:g.18023C>A
NG_008218.2:g.18023C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2561C>A	ENSP00000516154.1:p.Ala854Asp
ENST00000268124.11:c.2561C>A MANE Select	ENSP00000268124.5:p.Ala854Asp
ENST00000530292.3:c.2162C>A	ENSP00000432885.2:p.Ala721Asp
ENST00000635986.2:c.2561C>A	ENSP00000490653.2:p.Ala854Asp
ENST00000636774.1:c.*1128C>A	ENSP00000489799.1:n.*1128C>A
ENST00000637238.1:c.1258C>A	ENSP00000490756.1:n.1258C>A
ENST00000637264.1:c.1633C>A
ENST00000666746.1:c.2138C>A
ENST00000670281.1:c.800+189C>A	ENSP00000499709.1:n.800+189C>A
ENST00000672071.1:n.2759C>A
ENST00000672923.2:n.2503C>A
ENST00000268124.9:c.2561C>A	ENSP00000268124.5:p.Ala854Asp
ENST00000442287.6:c.2561C>A	ENSP00000399851.2:p.Ala854Asp
ENST00000528881.2:c.196-513C>A
ENST00000530715.5:c.186-904C>A	ENSP00000431395.1:n.186-904C>A
ENST00000631044.2:c.*1985C>A	ENSP00000486730.1:n.*1985C>A
NM_001126131.1:c.2561C>A	NP_001119603.1:p.Ala854Asp
NM_002693.2:c.2561C>A	NP_002684.1:p.Ala854Asp
NM_001126131.2:c.2561C>A	NP_001119603.1:p.Ala854Asp
NM_002693.3:c.2561C>A MANE Select	NP_002684.1:p.Ala854Asp