Canonical Allele Identifier: CA2697549289

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321116C>G , CM000677.2:g.89321116C>G	GRCh38
NC_000015.9:g.89864347C>G , CM000677.1:g.89864347C>G	GRCh37
NC_000015.8:g.87665351C>G	NCBI36
NG_008218.1:g.18680G>C
NG_008218.2:g.18680G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2734+9G>C MANE Select	NP_002684.1:n.2734+9G>C
ENST00000268124.11:c.2734+9G>C MANE Select	ENSP00000268124.5:n.2734+9G>C
NM_001126131.1:c.2734+9G>C	NP_001119603.1:n.2734+9G>C
NM_001126131.2:c.2734+9G>C	NP_001119603.1:n.2734+9G>C
NM_002693.2:c.2734+9G>C	NP_002684.1:n.2734+9G>C
ENST00000268124.9:c.2734+9G>C	ENSP00000268124.5:n.2734+9G>C
ENST00000442287.6:c.2734+9G>C	ENSP00000399851.2:n.2734+9G>C
ENST00000528881.2:c.331+9G>C
ENST00000530292.3:c.2335+9G>C	ENSP00000432885.2:n.2335+9G>C
ENST00000530715.5:c.186-247G>C	ENSP00000431395.1:n.186-247G>C
ENST00000631044.2:c.*2158+9G>C	ENSP00000486730.1:n.*2158+9G>C
ENST00000635986.2:c.2734+9G>C	ENSP00000490653.2:n.2734+9G>C
ENST00000636774.1:c.*1301+9G>C	ENSP00000489799.1:n.*1301+9G>C
ENST00000636937.2:c.2734+9G>C	ENSP00000516154.1:n.2734+9G>C
ENST00000637238.1:c.1440G>C	ENSP00000490756.1:n.1440G>C
ENST00000637264.1:c.1806+9G>C
ENST00000666746.1:c.2311+9G>C
ENST00000670281.1:c.800+846G>C	ENSP00000499709.1:n.800+846G>C
ENST00000672071.1:n.2932+9G>C
ENST00000672923.2:n.2676+9G>C