Canonical Allele Identifier: CA2194550758

Gene: POLG

Linked Data

• dbSNP Id: rs2055507898
• gnomAD v4: 15-89325707-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325707A>G , CM000677.2:g.89325707A>G	GRCh38
NC_000015.9:g.89868938A>G , CM000677.1:g.89868938A>G	GRCh37
NC_000015.8:g.87669942A>G	NCBI36
NG_008218.1:g.14089T>C
NG_008218.2:g.14089T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1713-21T>C	ENSP00000516154.1:n.1713-21T>C
ENST00000268124.11:c.1713-21T>C MANE Select	ENSP00000268124.5:n.1713-21T>C
ENST00000530292.3:c.1314-21T>C	ENSP00000432885.2:n.1314-21T>C
ENST00000635986.2:c.1713-21T>C	ENSP00000490653.2:n.1713-21T>C
ENST00000636774.1:c.*280-21T>C	ENSP00000489799.1:n.*280-21T>C
ENST00000637238.1:c.450-21T>C	ENSP00000490756.1:n.450-21T>C
ENST00000637264.1:c.785-21T>C
ENST00000666746.1:c.1290-21T>C
ENST00000670281.1:c.33-21T>C	ENSP00000499709.1:n.33-21T>C
ENST00000672071.1:n.1911-21T>C
ENST00000672923.2:n.1816-21T>C
ENST00000268124.9:c.1713-21T>C	ENSP00000268124.5:n.1713-21T>C
ENST00000442287.6:c.1713-21T>C	ENSP00000399851.2:n.1713-21T>C
ENST00000526314.2:c.95-21T>C
ENST00000631044.2:c.*1096-21T>C	ENSP00000486730.1:n.*1096-21T>C
NM_001126131.1:c.1713-21T>C	NP_001119603.1:n.1713-21T>C
NM_002693.2:c.1713-21T>C	NP_002684.1:n.1713-21T>C
NM_001126131.2:c.1713-21T>C	NP_001119603.1:n.1713-21T>C
NM_002693.3:c.1713-21T>C MANE Select	NP_002684.1:n.1713-21T>C