Canonical Allele Identifier: CA393753749

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321194C>G , CM000677.2:g.89321194C>G	GRCh38
NC_000015.9:g.89864425C>G , CM000677.1:g.89864425C>G	GRCh37
NC_000015.8:g.87665429C>G	NCBI36
NG_008218.1:g.18602G>C
NG_008218.2:g.18602G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2665G>C MANE Select	NP_002684.1:p.Ala889Pro
ENST00000268124.11:c.2665G>C MANE Select	ENSP00000268124.5:p.Ala889Pro
NM_001126131.1:c.2665G>C	NP_001119603.1:p.Ala889Pro
NM_001126131.2:c.2665G>C	NP_001119603.1:p.Ala889Pro
NM_002693.2:c.2665G>C	NP_002684.1:p.Ala889Pro
ENST00000268124.9:c.2665G>C	ENSP00000268124.5:p.Ala889Pro
ENST00000442287.6:c.2665G>C	ENSP00000399851.2:p.Ala889Pro
ENST00000528881.2:c.262G>C
ENST00000530292.3:c.2266G>C	ENSP00000432885.2:p.Ala756Pro
ENST00000530715.5:c.186-325G>C	ENSP00000431395.1:n.186-325G>C
ENST00000631044.2:c.*2089G>C	ENSP00000486730.1:n.*2089G>C
ENST00000635986.2:c.2665G>C	ENSP00000490653.2:p.Ala889Pro
ENST00000636774.1:c.*1232G>C	ENSP00000489799.1:n.*1232G>C
ENST00000636937.2:c.2665G>C	ENSP00000516154.1:p.Ala889Pro
ENST00000637238.1:c.1362G>C	ENSP00000490756.1:n.1362G>C
ENST00000637264.1:c.1737G>C
ENST00000666746.1:c.2242G>C
ENST00000670281.1:c.800+768G>C	ENSP00000499709.1:n.800+768G>C
ENST00000672071.1:n.2863G>C
ENST00000672923.2:n.2607G>C