Canonical Allele Identifier: CA393750238

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318740T>G , CM000677.2:g.89318740T>G	GRCh38
NC_000015.9:g.89861971T>G , CM000677.1:g.89861971T>G	GRCh37
NC_000015.8:g.87662975T>G	NCBI36
NG_008218.1:g.21056A>C
NG_011736.1:g.79778T>G , LRG_500:g.79778T>G
NG_008218.2:g.21056A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3283A>C	ENSP00000516154.1:p.Ser1095Arg
ENST00000268124.11:c.3283A>C MANE Select	ENSP00000268124.5:p.Ser1095Arg
ENST00000530292.3:c.2884A>C	ENSP00000432885.2:p.Ser962Arg
ENST00000635986.2:c.*353A>C	ENSP00000490653.2:n.*353A>C
ENST00000636774.1:c.*1850A>C	ENSP00000489799.1:n.*1850A>C
ENST00000637238.1:c.2092A>C	ENSP00000490756.1:n.2092A>C
ENST00000637264.1:c.2355A>C
ENST00000666746.1:c.2860A>C
ENST00000672071.1:n.3481A>C
ENST00000672695.1:n.460A>C
ENST00000672923.2:n.3283A>C
ENST00000268124.9:c.3283A>C	ENSP00000268124.5:p.Ser1095Arg
ENST00000442287.6:c.3283A>C	ENSP00000399851.2:p.Ser1095Arg
ENST00000530292.2:c.367A>C	ENSP00000432885.1:p.Ser123Arg
ENST00000631044.2:c.*2707A>C	ENSP00000486730.1:n.*2707A>C
NM_001126131.1:c.3283A>C	NP_001119603.1:p.Ser1095Arg
NM_002693.2:c.3283A>C	NP_002684.1:p.Ser1095Arg
NM_001126131.2:c.3283A>C	NP_001119603.1:p.Ser1095Arg
NM_002693.3:c.3283A>C MANE Select	NP_002684.1:p.Ser1095Arg