Canonical Allele Identifier: CA393756676
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323428G>T , CM000677.2:g.89323428G>T GRCh38
NC_000015.9:g.89866659G>T , CM000677.1:g.89866659G>T GRCh37
NC_000015.8:g.87667663G>T NCBI36
NG_008218.1:g.16368C>A
NG_008218.2:g.16368C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2241C>A ENSP00000516154.1:p.Cys747Ter
ENST00000268124.11:c.2241C>A MANE Select ENSP00000268124.5:p.Cys747Ter
ENST00000530292.3:c.1842C>A ENSP00000432885.2:p.Cys614Ter
ENST00000635986.2:c.2241C>A ENSP00000490653.2:p.Cys747Ter
ENST00000636774.1:c.*808C>A ENSP00000489799.1:n.*808C>A
ENST00000637238.1:c.938C>A ENSP00000490756.1:n.938C>A
ENST00000637264.1:c.1313C>A
ENST00000666746.1:c.1818C>A
ENST00000670281.1:c.561C>A ENSP00000499709.1:p.Cys187Ter
ENST00000672071.1:n.2439C>A
ENST00000672923.2:n.2344C>A
ENST00000268124.9:c.2241C>A ENSP00000268124.5:p.Cys747Ter
ENST00000442287.6:c.2241C>A ENSP00000399851.2:p.Cys747Ter
ENST00000526314.2:c.539+387C>A
ENST00000526398.1:c.390C>A
ENST00000528881.2:c.10C>A
ENST00000532584.5:n.443C>A
ENST00000631044.2:c.*1665C>A ENSP00000486730.1:n.*1665C>A
NM_001126131.1:c.2241C>A NP_001119603.1:p.Cys747Ter
NM_002693.2:c.2241C>A NP_002684.1:p.Cys747Ter
NM_001126131.2:c.2241C>A NP_001119603.1:p.Cys747Ter
NM_002693.3:c.2241C>A MANE Select NP_002684.1:p.Cys747Ter