Canonical Allele Identifier: CA393756558

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89322881C>G , CM000677.2:g.89322881C>G	GRCh38
NC_000015.9:g.89866112C>G , CM000677.1:g.89866112C>G	GRCh37
NC_000015.8:g.87667116C>G	NCBI36
NG_008218.1:g.16915G>C
NG_008218.2:g.16915G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2287G>C MANE Select	NP_002684.1:p.Gly763Arg
ENST00000268124.11:c.2287G>C MANE Select	ENSP00000268124.5:p.Gly763Arg
NM_001126131.1:c.2287G>C	NP_001119603.1:p.Gly763Arg
NM_001126131.2:c.2287G>C	NP_001119603.1:p.Gly763Arg
NM_002693.2:c.2287G>C	NP_002684.1:p.Gly763Arg
ENST00000268124.9:c.2287G>C	ENSP00000268124.5:p.Gly763Arg
ENST00000442287.6:c.2287G>C	ENSP00000399851.2:p.Gly763Arg
ENST00000526314.2:c.561G>C
ENST00000526398.1:c.436G>C
ENST00000528881.2:c.56G>C
ENST00000530292.3:c.1888G>C	ENSP00000432885.2:p.Gly630Arg
ENST00000530715.5:c.46G>C	ENSP00000431395.1:p.Gly16Arg
ENST00000532584.5:n.467+523G>C
ENST00000631044.2:c.*1711G>C	ENSP00000486730.1:n.*1711G>C
ENST00000635986.2:c.2287G>C	ENSP00000490653.2:p.Gly763Arg
ENST00000636774.1:c.*854G>C	ENSP00000489799.1:n.*854G>C
ENST00000636937.2:c.2287G>C	ENSP00000516154.1:p.Gly763Arg
ENST00000637238.1:c.984G>C	ENSP00000490756.1:n.984G>C
ENST00000637264.1:c.1359G>C
ENST00000666746.1:c.1864G>C
ENST00000670281.1:c.607G>C	ENSP00000499709.1:p.Gly203Arg
ENST00000672071.1:n.2485G>C
ENST00000672923.2:n.2368+523G>C