Canonical Allele Identifier: CA393756918
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323499C>G , CM000677.2:g.89323499C>G GRCh38
NC_000015.9:g.89866730C>G , CM000677.1:g.89866730C>G GRCh37
NC_000015.8:g.87667734C>G NCBI36
NG_008218.1:g.16297G>C
NG_008218.2:g.16297G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2170G>C ENSP00000516154.1:p.Gly724Arg
ENST00000268124.11:c.2170G>C MANE Select ENSP00000268124.5:p.Gly724Arg
ENST00000530292.3:c.1771G>C ENSP00000432885.2:p.Gly591Arg
ENST00000635986.2:c.2170G>C ENSP00000490653.2:p.Gly724Arg
ENST00000636774.1:c.*737G>C ENSP00000489799.1:n.*737G>C
ENST00000637238.1:c.867G>C ENSP00000490756.1:n.867G>C
ENST00000637264.1:c.1242G>C
ENST00000666746.1:c.1747G>C
ENST00000670281.1:c.490G>C ENSP00000499709.1:p.Gly164Arg
ENST00000672071.1:n.2368G>C
ENST00000672923.2:n.2273G>C
ENST00000268124.9:c.2170G>C ENSP00000268124.5:p.Gly724Arg
ENST00000442287.6:c.2170G>C ENSP00000399851.2:p.Gly724Arg
ENST00000526314.2:c.539+316G>C
ENST00000526398.1:c.319G>C
ENST00000532584.5:n.372G>C
ENST00000631044.2:c.*1594G>C ENSP00000486730.1:n.*1594G>C
NM_001126131.1:c.2170G>C NP_001119603.1:p.Gly724Arg
NM_002693.2:c.2170G>C NP_002684.1:p.Gly724Arg
NM_001126131.2:c.2170G>C NP_001119603.1:p.Gly724Arg
NM_002693.3:c.2170G>C MANE Select NP_002684.1:p.Gly724Arg