Canonical Allele Identifier: CA7724170

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318738G>C , CM000677.2:g.89318738G>C	GRCh38
NC_000015.9:g.89861969G>C , CM000677.1:g.89861969G>C	GRCh37
NC_000015.8:g.87662973G>C	NCBI36
NG_008218.1:g.21058C>G
NG_011736.1:g.79776G>C , LRG_500:g.79776G>C
NG_008218.2:g.21058C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3285C>G	ENSP00000516154.1:p.Ser1095Arg
ENST00000268124.11:c.3285C>G MANE Select	ENSP00000268124.5:p.Ser1095Arg
ENST00000530292.3:c.2886C>G	ENSP00000432885.2:p.Ser962Arg
ENST00000635986.2:c.*355C>G	ENSP00000490653.2:n.*355C>G
ENST00000636774.1:c.*1852C>G	ENSP00000489799.1:n.*1852C>G
ENST00000637238.1:c.2094C>G	ENSP00000490756.1:n.2094C>G
ENST00000637264.1:c.2357C>G
ENST00000666746.1:c.2862C>G
ENST00000672071.1:n.3483C>G
ENST00000672695.1:n.462C>G
ENST00000672923.2:n.3285C>G
ENST00000268124.9:c.3285C>G	ENSP00000268124.5:p.Ser1095Arg
ENST00000442287.6:c.3285C>G	ENSP00000399851.2:p.Ser1095Arg
ENST00000530292.2:c.369C>G	ENSP00000432885.1:p.Ser123Arg
ENST00000631044.2:c.*2709C>G	ENSP00000486730.1:n.*2709C>G
NM_001126131.1:c.3285C>G	NP_001119603.1:p.Ser1095Arg
NM_002693.2:c.3285C>G	NP_002684.1:p.Ser1095Arg
NM_001126131.2:c.3285C>G	NP_001119603.1:p.Ser1095Arg
NM_002693.3:c.3285C>G MANE Select	NP_002684.1:p.Ser1095Arg