Canonical Allele Identifier: CA10602232

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321779C>T , CM000677.2:g.89321779C>T	GRCh38
NC_000015.9:g.89865010C>T , CM000677.1:g.89865010C>T	GRCh37
NC_000015.8:g.87666014C>T	NCBI36
NG_008218.1:g.18017G>A
NG_008218.2:g.18017G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2555G>A MANE Select	NP_002684.1:p.Arg852His
ENST00000268124.11:c.2555G>A MANE Select	ENSP00000268124.5:p.Arg852His
NM_001126131.1:c.2555G>A	NP_001119603.1:p.Arg852His
NM_001126131.2:c.2555G>A	NP_001119603.1:p.Arg852His
NM_002693.2:c.2555G>A	NP_002684.1:p.Arg852His
ENST00000268124.9:c.2555G>A	ENSP00000268124.5:p.Arg852His
ENST00000442287.6:c.2555G>A	ENSP00000399851.2:p.Arg852His
ENST00000528881.2:c.196-519G>A
ENST00000530292.3:c.2156G>A	ENSP00000432885.2:p.Arg719His
ENST00000530715.5:c.186-910G>A	ENSP00000431395.1:n.186-910G>A
ENST00000532584.5:n.704G>A
ENST00000631044.2:c.*1979G>A	ENSP00000486730.1:n.*1979G>A
ENST00000635986.2:c.2555G>A	ENSP00000490653.2:p.Arg852His
ENST00000636774.1:c.*1122G>A	ENSP00000489799.1:n.*1122G>A
ENST00000636937.2:c.2555G>A	ENSP00000516154.1:p.Arg852His
ENST00000637238.1:c.1252G>A	ENSP00000490756.1:n.1252G>A
ENST00000637264.1:c.1627G>A
ENST00000666746.1:c.2132G>A
ENST00000670281.1:c.800+183G>A	ENSP00000499709.1:n.800+183G>A
ENST00000672071.1:n.2753G>A
ENST00000672923.2:n.2497G>A