Canonical Allele Identifier: CA492072501

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319344C>T , CM000677.2:g.89319344C>T	GRCh38
NC_000015.9:g.89862575C>T , CM000677.1:g.89862575C>T	GRCh37
NC_000015.8:g.87663579C>T	NCBI36
NG_008218.1:g.20452G>A
NG_008218.2:g.20452G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2988G>A MANE Select	NP_002684.1:p.Arg996=
ENST00000268124.11:c.2988G>A MANE Select	ENSP00000268124.5:p.Arg996=
NM_001126131.1:c.2988G>A	NP_001119603.1:p.Arg996=
NM_001126131.2:c.2988G>A	NP_001119603.1:p.Arg996=
NM_002693.2:c.2988G>A	NP_002684.1:p.Arg996=
ENST00000268124.9:c.2988G>A	ENSP00000268124.5:p.Arg996=
ENST00000442287.6:c.2988G>A	ENSP00000399851.2:p.Arg996=
ENST00000530292.2:c.72G>A	ENSP00000432885.1:p.Arg24=
ENST00000530292.3:c.2589G>A	ENSP00000432885.2:p.Arg863=
ENST00000530715.5:c.296G>A	ENSP00000431395.1:n.296G>A
ENST00000631044.2:c.*2412G>A	ENSP00000486730.1:n.*2412G>A
ENST00000635986.2:c.*58G>A	ENSP00000490653.2:n.*58G>A
ENST00000636530.1:n.29+7G>A
ENST00000636774.1:c.*1555G>A	ENSP00000489799.1:n.*1555G>A
ENST00000636812.1:c.94G>A
ENST00000636937.2:c.2988G>A	ENSP00000516154.1:p.Arg996=
ENST00000637238.1:c.1797G>A	ENSP00000490756.1:n.1797G>A
ENST00000637264.1:c.2060G>A
ENST00000666746.1:c.2565G>A
ENST00000670281.1:c.807G>A	ENSP00000499709.1:p.Arg269=
ENST00000672071.1:n.3186G>A
ENST00000672695.1:n.165G>A
ENST00000672923.2:n.2988G>A