Canonical Allele Identifier: CA393756703
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323440G>T , CM000677.2:g.89323440G>T GRCh38
NC_000015.9:g.89866671G>T , CM000677.1:g.89866671G>T GRCh37
NC_000015.8:g.87667675G>T NCBI36
NG_008218.1:g.16356C>A
NG_008218.2:g.16356C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2229C>A ENSP00000516154.1:p.Asp743Glu
ENST00000268124.11:c.2229C>A MANE Select ENSP00000268124.5:p.Asp743Glu
ENST00000530292.3:c.1830C>A ENSP00000432885.2:p.Asp610Glu
ENST00000635986.2:c.2229C>A ENSP00000490653.2:p.Asp743Glu
ENST00000636774.1:c.*796C>A ENSP00000489799.1:n.*796C>A
ENST00000637238.1:c.926C>A ENSP00000490756.1:n.926C>A
ENST00000637264.1:c.1301C>A
ENST00000666746.1:c.1806C>A
ENST00000670281.1:c.549C>A ENSP00000499709.1:p.Asp183Glu
ENST00000672071.1:n.2427C>A
ENST00000672923.2:n.2332C>A
ENST00000268124.9:c.2229C>A ENSP00000268124.5:p.Asp743Glu
ENST00000442287.6:c.2229C>A ENSP00000399851.2:p.Asp743Glu
ENST00000526314.2:c.539+375C>A
ENST00000526398.1:c.378C>A
ENST00000532584.5:n.431C>A
ENST00000631044.2:c.*1653C>A ENSP00000486730.1:n.*1653C>A
NM_001126131.1:c.2229C>A NP_001119603.1:p.Asp743Glu
NM_002693.2:c.2229C>A NP_002684.1:p.Asp743Glu
NM_001126131.2:c.2229C>A NP_001119603.1:p.Asp743Glu
NM_002693.3:c.2229C>A MANE Select NP_002684.1:p.Asp743Glu