Canonical Allele Identifier: CA393751503
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89319352T>G , CM000677.2:g.89319352T>G GRCh38
NC_000015.9:g.89862583T>G , CM000677.1:g.89862583T>G GRCh37
NC_000015.8:g.87663587T>G NCBI36
NG_008218.1:g.20444A>C
NG_008218.2:g.20444A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2982-2A>C ENSP00000516154.1:n.2982-2A>C
ENST00000268124.11:c.2982-2A>C MANE Select ENSP00000268124.5:n.2982-2A>C
ENST00000530292.3:c.2583-2A>C ENSP00000432885.2:n.2583-2A>C
ENST00000635986.2:c.*50A>C ENSP00000490653.2:n.*50A>C
ENST00000636530.1:n.28A>C
ENST00000636774.1:c.*1549-2A>C ENSP00000489799.1:n.*1549-2A>C
ENST00000636812.1:c.86A>C
ENST00000637238.1:c.1791-2A>C ENSP00000490756.1:n.1791-2A>C
ENST00000637264.1:c.2054-2A>C
ENST00000666746.1:c.2559-2A>C
ENST00000670281.1:c.801-2A>C ENSP00000499709.1:n.801-2A>C
ENST00000672071.1:n.3180-2A>C
ENST00000672695.1:n.159-2A>C
ENST00000672923.2:n.2980A>C
ENST00000268124.9:c.2982-2A>C ENSP00000268124.5:n.2982-2A>C
ENST00000442287.6:c.2982-2A>C ENSP00000399851.2:n.2982-2A>C
ENST00000530292.2:c.66-2A>C ENSP00000432885.1:n.66-2A>C
ENST00000530715.5:c.290-2A>C ENSP00000431395.1:n.290-2A>C
ENST00000631044.2:c.*2406-2A>C ENSP00000486730.1:n.*2406-2A>C
NM_001126131.1:c.2982-2A>C NP_001119603.1:n.2982-2A>C
NM_002693.2:c.2982-2A>C NP_002684.1:n.2982-2A>C
NM_001126131.2:c.2982-2A>C NP_001119603.1:n.2982-2A>C
NM_002693.3:c.2982-2A>C MANE Select NP_002684.1:n.2982-2A>C