Canonical Allele Identifier: CA393754317
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321765G>A , CM000677.2:g.89321765G>A GRCh38
NC_000015.9:g.89864996G>A , CM000677.1:g.89864996G>A GRCh37
NC_000015.8:g.87666000G>A NCBI36
NG_008218.1:g.18031C>T
NG_008218.2:g.18031C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2569C>T ENSP00000516154.1:p.Pro857Ser
ENST00000268124.11:c.2569C>T MANE Select ENSP00000268124.5:p.Pro857Ser
ENST00000530292.3:c.2170C>T ENSP00000432885.2:p.Pro724Ser
ENST00000635986.2:c.2569C>T ENSP00000490653.2:p.Pro857Ser
ENST00000636774.1:c.*1136C>T ENSP00000489799.1:n.*1136C>T
ENST00000637238.1:c.1266C>T ENSP00000490756.1:n.1266C>T
ENST00000637264.1:c.1641C>T
ENST00000666746.1:c.2146C>T
ENST00000670281.1:c.800+197C>T ENSP00000499709.1:n.800+197C>T
ENST00000672071.1:n.2767C>T
ENST00000672923.2:n.2511C>T
ENST00000268124.9:c.2569C>T ENSP00000268124.5:p.Pro857Ser
ENST00000442287.6:c.2569C>T ENSP00000399851.2:p.Pro857Ser
ENST00000528881.2:c.196-505C>T
ENST00000530715.5:c.186-896C>T ENSP00000431395.1:n.186-896C>T
ENST00000631044.2:c.*1993C>T ENSP00000486730.1:n.*1993C>T
NM_001126131.1:c.2569C>T NP_001119603.1:p.Pro857Ser
NM_002693.2:c.2569C>T NP_002684.1:p.Pro857Ser
NM_001126131.2:c.2569C>T NP_001119603.1:p.Pro857Ser
NM_002693.3:c.2569C>T MANE Select NP_002684.1:p.Pro857Ser