Canonical Allele Identifier: CA10602250

Gene: POLG

Linked Data

• ClinVar Variation Id: 619473
• ClinVar RCV Id: RCV000758524
• dbSNP Id: rs1567185886
• gnomAD v4: 15-89319366-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319366T>C , CM000677.2:g.89319366T>C	GRCh38
NC_000015.9:g.89862597T>C , CM000677.1:g.89862597T>C	GRCh37
NC_000015.8:g.87663601T>C	NCBI36
NG_008218.1:g.20430A>G
NG_008218.2:g.20430A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2982-16A>G	ENSP00000516154.1:n.2982-16A>G
ENST00000268124.11:c.2982-16A>G MANE Select	ENSP00000268124.5:n.2982-16A>G
ENST00000530292.3:c.2583-16A>G	ENSP00000432885.2:n.2583-16A>G
ENST00000635986.2:c.*36A>G	ENSP00000490653.2:n.*36A>G
ENST00000636530.1:n.14A>G
ENST00000636774.1:c.*1549-16A>G	ENSP00000489799.1:n.*1549-16A>G
ENST00000636812.1:c.72A>G
ENST00000637238.1:c.1791-16A>G	ENSP00000490756.1:n.1791-16A>G
ENST00000637264.1:c.2054-16A>G
ENST00000666746.1:c.2559-16A>G
ENST00000670281.1:c.801-16A>G	ENSP00000499709.1:n.801-16A>G
ENST00000672071.1:n.3180-16A>G
ENST00000672695.1:n.159-16A>G
ENST00000672923.2:n.2966A>G
ENST00000268124.9:c.2982-16A>G	ENSP00000268124.5:n.2982-16A>G
ENST00000442287.6:c.2982-16A>G	ENSP00000399851.2:n.2982-16A>G
ENST00000530292.2:c.66-16A>G	ENSP00000432885.1:n.66-16A>G
ENST00000530715.5:c.290-16A>G	ENSP00000431395.1:n.290-16A>G
ENST00000631044.2:c.*2406-16A>G	ENSP00000486730.1:n.*2406-16A>G
NM_001126131.1:c.2982-16A>G	NP_001119603.1:n.2982-16A>G
NM_002693.2:c.2982-16A>G	NP_002684.1:n.2982-16A>G
NM_001126131.2:c.2982-16A>G	NP_001119603.1:n.2982-16A>G
NM_002693.3:c.2982-16A>G MANE Select	NP_002684.1:n.2982-16A>G