Canonical Allele Identifier: CA393758971
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325466C>T , CM000677.2:g.89325466C>T GRCh38
NC_000015.9:g.89868697C>T , CM000677.1:g.89868697C>T GRCh37
NC_000015.8:g.87669701C>T NCBI36
NG_008218.1:g.14330G>A
NG_008218.2:g.14330G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1933G>A ENSP00000516154.1:p.Val645Met
ENST00000268124.11:c.1933G>A MANE Select ENSP00000268124.5:p.Val645Met
ENST00000530292.3:c.1534G>A ENSP00000432885.2:p.Val512Met
ENST00000635986.2:c.1933G>A ENSP00000490653.2:p.Val645Met
ENST00000636774.1:c.*500G>A ENSP00000489799.1:n.*500G>A
ENST00000637238.1:c.646+24G>A ENSP00000490756.1:n.646+24G>A
ENST00000637264.1:c.1005G>A
ENST00000666746.1:c.1510G>A
ENST00000670281.1:c.253G>A ENSP00000499709.1:p.Val85Met
ENST00000672071.1:n.2131G>A
ENST00000672923.2:n.2036G>A
ENST00000268124.9:c.1933G>A ENSP00000268124.5:p.Val645Met
ENST00000442287.6:c.1933G>A ENSP00000399851.2:p.Val645Met
ENST00000526314.2:c.315G>A
ENST00000526398.1:c.122G>A
ENST00000526573.1:n.19G>A
ENST00000532584.5:n.135G>A
ENST00000631044.2:c.*1316G>A ENSP00000486730.1:n.*1316G>A
NM_001126131.1:c.1933G>A NP_001119603.1:p.Val645Met
NM_002693.2:c.1933G>A NP_002684.1:p.Val645Met
NM_001126131.2:c.1933G>A NP_001119603.1:p.Val645Met
NM_002693.3:c.1933G>A MANE Select NP_002684.1:p.Val645Met