Canonical Allele Identifier: CA716910740

Gene: POLG

Linked Data

• dbSNP Id: rs3176190
• gnomAD v3: 15-89325718-G-C
• gnomAD v4: 15-89325718-G-C
• MyVariant Identifiers: chr15:g.89868949G>C (hg19) ; chr15:g.89325718G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325718G>C , CM000677.2:g.89325718G>C	GRCh38
NC_000015.9:g.89868949G>C , CM000677.1:g.89868949G>C	GRCh37
NC_000015.8:g.87669953G>C	NCBI36
NG_008218.1:g.14078C>G
NG_008218.2:g.14078C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1713-32C>G	ENSP00000516154.1:n.1713-32C>G
ENST00000268124.11:c.1713-32C>G MANE Select	ENSP00000268124.5:n.1713-32C>G
ENST00000530292.3:c.1314-32C>G	ENSP00000432885.2:n.1314-32C>G
ENST00000635986.2:c.1713-32C>G	ENSP00000490653.2:n.1713-32C>G
ENST00000636774.1:c.*280-32C>G	ENSP00000489799.1:n.*280-32C>G
ENST00000637238.1:c.450-32C>G	ENSP00000490756.1:n.450-32C>G
ENST00000637264.1:c.785-32C>G
ENST00000666746.1:c.1290-32C>G
ENST00000670281.1:c.33-32C>G	ENSP00000499709.1:n.33-32C>G
ENST00000672071.1:n.1911-32C>G
ENST00000672923.2:n.1816-32C>G
ENST00000268124.9:c.1713-32C>G	ENSP00000268124.5:n.1713-32C>G
ENST00000442287.6:c.1713-32C>G	ENSP00000399851.2:n.1713-32C>G
ENST00000526314.2:c.95-32C>G
ENST00000631044.2:c.*1096-32C>G	ENSP00000486730.1:n.*1096-32C>G
NM_001126131.1:c.1713-32C>G	NP_001119603.1:n.1713-32C>G
NM_002693.2:c.1713-32C>G	NP_002684.1:n.1713-32C>G
NM_001126131.2:c.1713-32C>G	NP_001119603.1:n.1713-32C>G
NM_002693.3:c.1713-32C>G MANE Select	NP_002684.1:n.1713-32C>G