Canonical Allele Identifier: CA393753216
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89320980C>T , CM000677.2:g.89320980C>T GRCh38
NC_000015.9:g.89864211C>T , CM000677.1:g.89864211C>T GRCh37
NC_000015.8:g.87665215C>T NCBI36
NG_008218.1:g.18816G>A
NG_008218.2:g.18816G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2767G>A ENSP00000516154.1:p.Gly923Ser
ENST00000268124.11:c.2767G>A MANE Select ENSP00000268124.5:p.Gly923Ser
ENST00000530292.3:c.2368G>A ENSP00000432885.2:p.Gly790Ser
ENST00000635986.2:c.2767G>A ENSP00000490653.2:p.Gly923Ser
ENST00000636774.1:c.*1334G>A ENSP00000489799.1:n.*1334G>A
ENST00000637238.1:c.1576G>A ENSP00000490756.1:n.1576G>A
ENST00000637264.1:c.1839G>A
ENST00000666746.1:c.2344G>A
ENST00000670281.1:c.800+982G>A ENSP00000499709.1:n.800+982G>A
ENST00000672071.1:n.2965G>A
ENST00000672923.2:n.2709G>A
ENST00000268124.9:c.2767G>A ENSP00000268124.5:p.Gly923Ser
ENST00000442287.6:c.2767G>A ENSP00000399851.2:p.Gly923Ser
ENST00000528881.2:c.364G>A
ENST00000530715.5:c.186-111G>A ENSP00000431395.1:n.186-111G>A
ENST00000631044.2:c.*2191G>A ENSP00000486730.1:n.*2191G>A
NM_001126131.1:c.2767G>A NP_001119603.1:p.Gly923Ser
NM_002693.2:c.2767G>A NP_002684.1:p.Gly923Ser
NM_001126131.2:c.2767G>A NP_001119603.1:p.Gly923Ser
NM_002693.3:c.2767G>A MANE Select NP_002684.1:p.Gly923Ser