Canonical Allele Identifier: CA2630255688
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323520G>T , CM000677.2:g.89323520G>T GRCh38
NC_000015.9:g.89866751G>T , CM000677.1:g.89866751G>T GRCh37
NC_000015.8:g.87667755G>T NCBI36
NG_008218.1:g.16276C>A
NG_008218.2:g.16276C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2158-9C>A ENSP00000516154.1:n.2158-9C>A
ENST00000268124.11:c.2158-9C>A MANE Select ENSP00000268124.5:n.2158-9C>A
ENST00000530292.3:c.1759-9C>A ENSP00000432885.2:n.1759-9C>A
ENST00000635986.2:c.2158-9C>A ENSP00000490653.2:n.2158-9C>A
ENST00000636774.1:c.*725-9C>A ENSP00000489799.1:n.*725-9C>A
ENST00000637238.1:c.855-9C>A ENSP00000490756.1:n.855-9C>A
ENST00000637264.1:c.1230-9C>A
ENST00000666746.1:c.1735-9C>A
ENST00000670281.1:c.478-9C>A ENSP00000499709.1:n.478-9C>A
ENST00000672071.1:n.2356-9C>A
ENST00000672923.2:n.2261-9C>A
ENST00000268124.9:c.2158-9C>A ENSP00000268124.5:n.2158-9C>A
ENST00000442287.6:c.2158-9C>A ENSP00000399851.2:n.2158-9C>A
ENST00000526314.2:c.539+295C>A
ENST00000526398.1:c.307-9C>A
ENST00000526573.1:n.538C>A
ENST00000532584.5:n.360-9C>A
ENST00000533857.1:n.567C>A
ENST00000631044.2:c.*1573C>A ENSP00000486730.1:n.*1573C>A
NM_001126131.1:c.2158-9C>A NP_001119603.1:n.2158-9C>A
NM_002693.2:c.2158-9C>A NP_002684.1:n.2158-9C>A
NM_001126131.2:c.2158-9C>A NP_001119603.1:n.2158-9C>A
NM_002693.3:c.2158-9C>A MANE Select NP_002684.1:n.2158-9C>A