Canonical Allele Identifier: CA2739269675

Gene: POLG

Linked Data

• ClinVar Variation Id: 2850057
• ClinVar RCV Id: RCV003628525

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319368A>G , CM000677.2:g.89319368A>G	GRCh38
NC_000015.9:g.89862599A>G , CM000677.1:g.89862599A>G	GRCh37
NC_000015.8:g.87663603A>G	NCBI36
NG_008218.1:g.20428T>C
NG_008218.2:g.20428T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2982-18T>C	ENSP00000516154.1:n.2982-18T>C
ENST00000268124.11:c.2982-18T>C MANE Select	ENSP00000268124.5:n.2982-18T>C
ENST00000530292.3:c.2583-18T>C	ENSP00000432885.2:n.2583-18T>C
ENST00000635986.2:c.*34T>C	ENSP00000490653.2:n.*34T>C
ENST00000636530.1:n.12T>C
ENST00000636774.1:c.*1549-18T>C	ENSP00000489799.1:n.*1549-18T>C
ENST00000636812.1:c.70T>C
ENST00000637238.1:c.1791-18T>C	ENSP00000490756.1:n.1791-18T>C
ENST00000637264.1:c.2054-18T>C
ENST00000666746.1:c.2559-18T>C
ENST00000670281.1:c.801-18T>C	ENSP00000499709.1:n.801-18T>C
ENST00000672071.1:n.3180-18T>C
ENST00000672695.1:n.159-18T>C
ENST00000672923.2:n.2964T>C
ENST00000268124.9:c.2982-18T>C	ENSP00000268124.5:n.2982-18T>C
ENST00000442287.6:c.2982-18T>C	ENSP00000399851.2:n.2982-18T>C
ENST00000530292.2:c.66-18T>C	ENSP00000432885.1:n.66-18T>C
ENST00000530715.5:c.290-18T>C	ENSP00000431395.1:n.290-18T>C
ENST00000631044.2:c.*2406-18T>C	ENSP00000486730.1:n.*2406-18T>C
NM_001126131.1:c.2982-18T>C	NP_001119603.1:n.2982-18T>C
NM_002693.2:c.2982-18T>C	NP_002684.1:n.2982-18T>C
NM_001126131.2:c.2982-18T>C	NP_001119603.1:n.2982-18T>C
NM_002693.3:c.2982-18T>C MANE Select	NP_002684.1:n.2982-18T>C