Canonical Allele Identifier: CA393753123
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89320961G>C , CM000677.2:g.89320961G>C GRCh38
NC_000015.9:g.89864192G>C , CM000677.1:g.89864192G>C GRCh37
NC_000015.8:g.87665196G>C NCBI36
NG_008218.1:g.18835C>G
NG_008218.2:g.18835C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2786C>G ENSP00000516154.1:p.Thr929Ser
ENST00000268124.11:c.2786C>G MANE Select ENSP00000268124.5:p.Thr929Ser
ENST00000530292.3:c.2387C>G ENSP00000432885.2:p.Thr796Ser
ENST00000635986.2:c.2786C>G ENSP00000490653.2:p.Thr929Ser
ENST00000636774.1:c.*1353C>G ENSP00000489799.1:n.*1353C>G
ENST00000637238.1:c.1595C>G ENSP00000490756.1:n.1595C>G
ENST00000637264.1:c.1858C>G
ENST00000666746.1:c.2363C>G
ENST00000670281.1:c.800+1001C>G ENSP00000499709.1:n.800+1001C>G
ENST00000672071.1:n.2984C>G
ENST00000672923.2:n.2728C>G
ENST00000268124.9:c.2786C>G ENSP00000268124.5:p.Thr929Ser
ENST00000442287.6:c.2786C>G ENSP00000399851.2:p.Thr929Ser
ENST00000528881.2:c.383C>G
ENST00000530715.5:c.186-92C>G ENSP00000431395.1:n.186-92C>G
ENST00000631044.2:c.*2210C>G ENSP00000486730.1:n.*2210C>G
NM_001126131.1:c.2786C>G NP_001119603.1:p.Thr929Ser
NM_002693.2:c.2786C>G NP_002684.1:p.Thr929Ser
NM_001126131.2:c.2786C>G NP_001119603.1:p.Thr929Ser
NM_002693.3:c.2786C>G MANE Select NP_002684.1:p.Thr929Ser