Canonical Allele Identifier: CA393752726

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320885G>C , CM000677.2:g.89320885G>C	GRCh38
NC_000015.9:g.89864116G>C , CM000677.1:g.89864116G>C	GRCh37
NC_000015.8:g.87665120G>C	NCBI36
NG_008218.1:g.18911C>G
NG_008218.2:g.18911C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2862C>G MANE Select	NP_002684.1:p.Ile954Met
ENST00000268124.11:c.2862C>G MANE Select	ENSP00000268124.5:p.Ile954Met
NM_001126131.1:c.2862C>G	NP_001119603.1:p.Ile954Met
NM_001126131.2:c.2862C>G	NP_001119603.1:p.Ile954Met
NM_002693.2:c.2862C>G	NP_002684.1:p.Ile954Met
ENST00000268124.9:c.2862C>G	ENSP00000268124.5:p.Ile954Met
ENST00000442287.6:c.2862C>G	ENSP00000399851.2:p.Ile954Met
ENST00000528881.2:c.459C>G
ENST00000530292.3:c.2463C>G	ENSP00000432885.2:p.Ile821Met
ENST00000530715.5:c.186-16C>G	ENSP00000431395.1:n.186-16C>G
ENST00000631044.2:c.*2286C>G	ENSP00000486730.1:n.*2286C>G
ENST00000635986.2:c.2862C>G	ENSP00000490653.2:p.Ile954Met
ENST00000636774.1:c.*1429C>G	ENSP00000489799.1:n.*1429C>G
ENST00000636937.2:c.2862C>G	ENSP00000516154.1:p.Ile954Met
ENST00000637238.1:c.1671C>G	ENSP00000490756.1:n.1671C>G
ENST00000637264.1:c.1934C>G
ENST00000666746.1:c.2439C>G
ENST00000670281.1:c.800+1077C>G	ENSP00000499709.1:n.800+1077C>G
ENST00000672071.1:n.3060C>G
ENST00000672695.1:n.39C>G
ENST00000672923.2:n.2804C>G