Canonical Allele Identifier: CA393757248

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323878T>G , CM000677.2:g.89323878T>G	GRCh38
NC_000015.9:g.89867109T>G , CM000677.1:g.89867109T>G	GRCh37
NC_000015.8:g.87668113T>G	NCBI36
NG_008218.1:g.15918A>C
NG_008218.2:g.15918A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2094A>C MANE Select	NP_002684.1:p.Glu698Asp
ENST00000268124.11:c.2094A>C MANE Select	ENSP00000268124.5:p.Glu698Asp
NM_001126131.1:c.2094A>C	NP_001119603.1:p.Glu698Asp
NM_001126131.2:c.2094A>C	NP_001119603.1:p.Glu698Asp
NM_002693.2:c.2094A>C	NP_002684.1:p.Glu698Asp
ENST00000268124.9:c.2094A>C	ENSP00000268124.5:p.Glu698Asp
ENST00000442287.6:c.2094A>C	ENSP00000399851.2:p.Glu698Asp
ENST00000526314.2:c.476A>C
ENST00000526398.1:c.243A>C
ENST00000526573.1:n.180A>C
ENST00000530292.3:c.1695A>C	ENSP00000432885.2:p.Glu565Asp
ENST00000532584.5:n.296A>C
ENST00000533857.1:n.209A>C
ENST00000631044.2:c.*1477A>C	ENSP00000486730.1:n.*1477A>C
ENST00000635986.2:c.2094A>C	ENSP00000490653.2:p.Glu698Asp
ENST00000636774.1:c.*661A>C	ENSP00000489799.1:n.*661A>C
ENST00000636937.2:c.2094A>C	ENSP00000516154.1:p.Glu698Asp
ENST00000637238.1:c.791A>C	ENSP00000490756.1:n.791A>C
ENST00000637264.1:c.1166A>C
ENST00000666746.1:c.1671A>C
ENST00000670281.1:c.414A>C	ENSP00000499709.1:p.Glu138Asp
ENST00000672071.1:n.2292A>C
ENST00000672923.2:n.2197A>C