Canonical Allele Identifier: CA492289351

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323839T>C , CM000677.2:g.89323839T>C	GRCh38
NC_000015.9:g.89867070T>C , CM000677.1:g.89867070T>C	GRCh37
NC_000015.8:g.87668074T>C	NCBI36
NG_008218.1:g.15957A>G
NG_008218.2:g.15957A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2133A>G MANE Select	NP_002684.1:p.Ala711=
ENST00000268124.11:c.2133A>G MANE Select	ENSP00000268124.5:p.Ala711=
NM_001126131.1:c.2133A>G	NP_001119603.1:p.Ala711=
NM_001126131.2:c.2133A>G	NP_001119603.1:p.Ala711=
NM_002693.2:c.2133A>G	NP_002684.1:p.Ala711=
ENST00000268124.9:c.2133A>G	ENSP00000268124.5:p.Ala711=
ENST00000442287.6:c.2133A>G	ENSP00000399851.2:p.Ala711=
ENST00000526314.2:c.515A>G
ENST00000526398.1:c.282A>G
ENST00000526573.1:n.219A>G
ENST00000530292.3:c.1734A>G	ENSP00000432885.2:p.Ala578=
ENST00000532584.5:n.335A>G
ENST00000533857.1:n.248A>G
ENST00000631044.2:c.*1516A>G	ENSP00000486730.1:n.*1516A>G
ENST00000635986.2:c.2133A>G	ENSP00000490653.2:p.Ala711=
ENST00000636774.1:c.*700A>G	ENSP00000489799.1:n.*700A>G
ENST00000636937.2:c.2133A>G	ENSP00000516154.1:p.Ala711=
ENST00000637238.1:c.830A>G	ENSP00000490756.1:n.830A>G
ENST00000637264.1:c.1205A>G
ENST00000666746.1:c.1710A>G
ENST00000670281.1:c.453A>G	ENSP00000499709.1:p.Ala151=
ENST00000672071.1:n.2331A>G
ENST00000672923.2:n.2236A>G