Canonical Allele Identifier: CA393759181
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325525G>T , CM000677.2:g.89325525G>T GRCh38
NC_000015.9:g.89868756G>T , CM000677.1:g.89868756G>T GRCh37
NC_000015.8:g.87669760G>T NCBI36
NG_008218.1:g.14271C>A
NG_008218.2:g.14271C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1874C>A ENSP00000516154.1:p.Pro625His
ENST00000268124.11:c.1874C>A MANE Select ENSP00000268124.5:p.Pro625His
ENST00000530292.3:c.1475C>A ENSP00000432885.2:p.Pro492His
ENST00000635986.2:c.1874C>A ENSP00000490653.2:p.Pro625His
ENST00000636774.1:c.*441C>A ENSP00000489799.1:n.*441C>A
ENST00000637238.1:c.611C>A ENSP00000490756.1:p.Pro204His
ENST00000637264.1:c.946C>A
ENST00000666746.1:c.1451C>A
ENST00000670281.1:c.194C>A ENSP00000499709.1:p.Pro65His
ENST00000672071.1:n.2072C>A
ENST00000672923.2:n.1977C>A
ENST00000268124.9:c.1874C>A ENSP00000268124.5:p.Pro625His
ENST00000442287.6:c.1874C>A ENSP00000399851.2:p.Pro625His
ENST00000526314.2:c.256C>A
ENST00000526398.1:c.63C>A
ENST00000532584.5:n.76C>A
ENST00000631044.2:c.*1257C>A ENSP00000486730.1:n.*1257C>A
NM_001126131.1:c.1874C>A NP_001119603.1:p.Pro625His
NM_002693.2:c.1874C>A NP_002684.1:p.Pro625His
NM_001126131.2:c.1874C>A NP_001119603.1:p.Pro625His
NM_002693.3:c.1874C>A MANE Select NP_002684.1:p.Pro625His