Canonical Allele Identifier: CA285511

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89324193C>T , CM000677.2:g.89324193C>T	GRCh38
NC_000015.9:g.89867424C>T , CM000677.1:g.89867424C>T	GRCh37
NC_000015.8:g.87668428C>T	NCBI36
NG_008218.1:g.15603G>A
NG_008218.2:g.15603G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1984G>A	ENSP00000516154.1:p.Glu662Lys
ENST00000268124.11:c.1984G>A MANE Select	ENSP00000268124.5:p.Glu662Lys
ENST00000530292.3:c.1585G>A	ENSP00000432885.2:p.Glu529Lys
ENST00000635986.2:c.1984G>A	ENSP00000490653.2:p.Glu662Lys
ENST00000636774.1:c.*551G>A	ENSP00000489799.1:n.*551G>A
ENST00000637238.1:c.681G>A	ENSP00000490756.1:p.Ser227=
ENST00000637264.1:c.1056G>A
ENST00000666746.1:c.1561G>A
ENST00000670281.1:c.304G>A	ENSP00000499709.1:p.Glu102Lys
ENST00000672071.1:n.2182G>A
ENST00000672923.2:n.2087G>A
ENST00000268124.9:c.1984G>A	ENSP00000268124.5:p.Glu662Lys
ENST00000442287.6:c.1984G>A	ENSP00000399851.2:p.Glu662Lys
ENST00000526314.2:c.366G>A
ENST00000526398.1:c.139-6G>A
ENST00000526573.1:n.70G>A
ENST00000532584.5:n.186G>A
ENST00000533857.1:n.99G>A
ENST00000631044.2:c.*1367G>A	ENSP00000486730.1:n.*1367G>A
NM_001126131.1:c.1984G>A	NP_001119603.1:p.Glu662Lys
NM_002693.2:c.1984G>A	NP_002684.1:p.Glu662Lys
NM_001126131.2:c.1984G>A	NP_001119603.1:p.Glu662Lys
NM_002693.3:c.1984G>A MANE Select	NP_002684.1:p.Glu662Lys