Canonical Allele Identifier: CA393757290

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323888T>C , CM000677.2:g.89323888T>C	GRCh38
NC_000015.9:g.89867119T>C , CM000677.1:g.89867119T>C	GRCh37
NC_000015.8:g.87668123T>C	NCBI36
NG_008218.1:g.15908A>G
NG_008218.2:g.15908A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2084A>G MANE Select	NP_002684.1:p.Asp695Gly
ENST00000268124.11:c.2084A>G MANE Select	ENSP00000268124.5:p.Asp695Gly
NM_001126131.1:c.2084A>G	NP_001119603.1:p.Asp695Gly
NM_001126131.2:c.2084A>G	NP_001119603.1:p.Asp695Gly
NM_002693.2:c.2084A>G	NP_002684.1:p.Asp695Gly
ENST00000268124.9:c.2084A>G	ENSP00000268124.5:p.Asp695Gly
ENST00000442287.6:c.2084A>G	ENSP00000399851.2:p.Asp695Gly
ENST00000526314.2:c.466A>G
ENST00000526398.1:c.233A>G
ENST00000526573.1:n.170A>G
ENST00000530292.3:c.1685A>G	ENSP00000432885.2:p.Asp562Gly
ENST00000532584.5:n.286A>G
ENST00000533857.1:n.199A>G
ENST00000631044.2:c.*1467A>G	ENSP00000486730.1:n.*1467A>G
ENST00000635986.2:c.2084A>G	ENSP00000490653.2:p.Asp695Gly
ENST00000636774.1:c.*651A>G	ENSP00000489799.1:n.*651A>G
ENST00000636937.2:c.2084A>G	ENSP00000516154.1:p.Asp695Gly
ENST00000637238.1:c.781A>G	ENSP00000490756.1:n.781A>G
ENST00000637264.1:c.1156A>G
ENST00000666746.1:c.1661A>G
ENST00000670281.1:c.404A>G	ENSP00000499709.1:p.Asp135Gly
ENST00000672071.1:n.2282A>G
ENST00000672923.2:n.2187A>G