Canonical Allele Identifier: CA492289557

Gene: POLG

Linked Data

• ClinVar Variation Id: 1645242
• ClinVar RCV Id: RCV002143791
• dbSNP Id: rs2055507868
• gnomAD v4: 15-89325706-C-G
• MyVariant Identifiers: chr15:g.89868937C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325706C>G , CM000677.2:g.89325706C>G	GRCh38
NC_000015.9:g.89868937C>G , CM000677.1:g.89868937C>G	GRCh37
NC_000015.8:g.87669941C>G	NCBI36
NG_008218.1:g.14090G>C
NG_008218.2:g.14090G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1713-20G>C	ENSP00000516154.1:n.1713-20G>C
ENST00000268124.11:c.1713-20G>C MANE Select	ENSP00000268124.5:n.1713-20G>C
ENST00000530292.3:c.1314-20G>C	ENSP00000432885.2:n.1314-20G>C
ENST00000635986.2:c.1713-20G>C	ENSP00000490653.2:n.1713-20G>C
ENST00000636774.1:c.*280-20G>C	ENSP00000489799.1:n.*280-20G>C
ENST00000637238.1:c.450-20G>C	ENSP00000490756.1:n.450-20G>C
ENST00000637264.1:c.785-20G>C
ENST00000666746.1:c.1290-20G>C
ENST00000670281.1:c.33-20G>C	ENSP00000499709.1:n.33-20G>C
ENST00000672071.1:n.1911-20G>C
ENST00000672923.2:n.1816-20G>C
ENST00000268124.9:c.1713-20G>C	ENSP00000268124.5:n.1713-20G>C
ENST00000442287.6:c.1713-20G>C	ENSP00000399851.2:n.1713-20G>C
ENST00000526314.2:c.95-20G>C
ENST00000631044.2:c.*1096-20G>C	ENSP00000486730.1:n.*1096-20G>C
NM_001126131.1:c.1713-20G>C	NP_001119603.1:n.1713-20G>C
NM_002693.2:c.1713-20G>C	NP_002684.1:n.1713-20G>C
NM_001126131.2:c.1713-20G>C	NP_001119603.1:n.1713-20G>C
NM_002693.3:c.1713-20G>C MANE Select	NP_002684.1:n.1713-20G>C