Canonical Allele Identifier: CA393752893
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89320911C>T , CM000677.2:g.89320911C>T GRCh38
NC_000015.9:g.89864142C>T , CM000677.1:g.89864142C>T GRCh37
NC_000015.8:g.87665146C>T NCBI36
NG_008218.1:g.18885G>A
NG_008218.2:g.18885G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2836G>A ENSP00000516154.1:p.Ala946Thr
ENST00000268124.11:c.2836G>A MANE Select ENSP00000268124.5:p.Ala946Thr
ENST00000530292.3:c.2437G>A ENSP00000432885.2:p.Ala813Thr
ENST00000635986.2:c.2836G>A ENSP00000490653.2:p.Ala946Thr
ENST00000636774.1:c.*1403G>A ENSP00000489799.1:n.*1403G>A
ENST00000637238.1:c.1645G>A ENSP00000490756.1:n.1645G>A
ENST00000637264.1:c.1908G>A
ENST00000666746.1:c.2413G>A
ENST00000670281.1:c.800+1051G>A ENSP00000499709.1:n.800+1051G>A
ENST00000672071.1:n.3034G>A
ENST00000672695.1:n.13G>A
ENST00000672923.2:n.2778G>A
ENST00000268124.9:c.2836G>A ENSP00000268124.5:p.Ala946Thr
ENST00000442287.6:c.2836G>A ENSP00000399851.2:p.Ala946Thr
ENST00000528881.2:c.433G>A
ENST00000530715.5:c.186-42G>A ENSP00000431395.1:n.186-42G>A
ENST00000631044.2:c.*2260G>A ENSP00000486730.1:n.*2260G>A
NM_001126131.1:c.2836G>A NP_001119603.1:p.Ala946Thr
NM_002693.2:c.2836G>A NP_002684.1:p.Ala946Thr
NM_001126131.2:c.2836G>A NP_001119603.1:p.Ala946Thr
NM_002693.3:c.2836G>A MANE Select NP_002684.1:p.Ala946Thr