Canonical Allele Identifier: CA393754389

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321777G>C , CM000677.2:g.89321777G>C	GRCh38
NC_000015.9:g.89865008G>C , CM000677.1:g.89865008G>C	GRCh37
NC_000015.8:g.87666012G>C	NCBI36
NG_008218.1:g.18019C>G
NG_008218.2:g.18019C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2557C>G MANE Select	NP_002684.1:p.Arg853Gly
ENST00000268124.11:c.2557C>G MANE Select	ENSP00000268124.5:p.Arg853Gly
NM_001126131.1:c.2557C>G	NP_001119603.1:p.Arg853Gly
NM_001126131.2:c.2557C>G	NP_001119603.1:p.Arg853Gly
NM_002693.2:c.2557C>G	NP_002684.1:p.Arg853Gly
ENST00000268124.9:c.2557C>G	ENSP00000268124.5:p.Arg853Gly
ENST00000442287.6:c.2557C>G	ENSP00000399851.2:p.Arg853Gly
ENST00000528881.2:c.196-517C>G
ENST00000530292.3:c.2158C>G	ENSP00000432885.2:p.Arg720Gly
ENST00000530715.5:c.186-908C>G	ENSP00000431395.1:n.186-908C>G
ENST00000532584.5:n.706C>G
ENST00000631044.2:c.*1981C>G	ENSP00000486730.1:n.*1981C>G
ENST00000635986.2:c.2557C>G	ENSP00000490653.2:p.Arg853Gly
ENST00000636774.1:c.*1124C>G	ENSP00000489799.1:n.*1124C>G
ENST00000636937.2:c.2557C>G	ENSP00000516154.1:p.Arg853Gly
ENST00000637238.1:c.1254C>G	ENSP00000490756.1:n.1254C>G
ENST00000637264.1:c.1629C>G
ENST00000666746.1:c.2134C>G
ENST00000670281.1:c.800+185C>G	ENSP00000499709.1:n.800+185C>G
ENST00000672071.1:n.2755C>G
ENST00000672923.2:n.2499C>G