Canonical Allele Identifier: CA2630253289
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89319353G>T , CM000677.2:g.89319353G>T GRCh38
NC_000015.9:g.89862584G>T , CM000677.1:g.89862584G>T GRCh37
NC_000015.8:g.87663588G>T NCBI36
NG_008218.1:g.20443C>A
NG_008218.2:g.20443C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2982-3C>A ENSP00000516154.1:n.2982-3C>A
ENST00000268124.11:c.2982-3C>A MANE Select ENSP00000268124.5:n.2982-3C>A
ENST00000530292.3:c.2583-3C>A ENSP00000432885.2:n.2583-3C>A
ENST00000635986.2:c.*49C>A ENSP00000490653.2:n.*49C>A
ENST00000636530.1:n.27C>A
ENST00000636774.1:c.*1549-3C>A ENSP00000489799.1:n.*1549-3C>A
ENST00000636812.1:c.85C>A
ENST00000637238.1:c.1791-3C>A ENSP00000490756.1:n.1791-3C>A
ENST00000637264.1:c.2054-3C>A
ENST00000666746.1:c.2559-3C>A
ENST00000670281.1:c.801-3C>A ENSP00000499709.1:n.801-3C>A
ENST00000672071.1:n.3180-3C>A
ENST00000672695.1:n.159-3C>A
ENST00000672923.2:n.2979C>A
ENST00000268124.9:c.2982-3C>A ENSP00000268124.5:n.2982-3C>A
ENST00000442287.6:c.2982-3C>A ENSP00000399851.2:n.2982-3C>A
ENST00000530292.2:c.66-3C>A ENSP00000432885.1:n.66-3C>A
ENST00000530715.5:c.290-3C>A ENSP00000431395.1:n.290-3C>A
ENST00000631044.2:c.*2406-3C>A ENSP00000486730.1:n.*2406-3C>A
NM_001126131.1:c.2982-3C>A NP_001119603.1:n.2982-3C>A
NM_002693.2:c.2982-3C>A NP_002684.1:n.2982-3C>A
NM_001126131.2:c.2982-3C>A NP_001119603.1:n.2982-3C>A
NM_002693.3:c.2982-3C>A MANE Select NP_002684.1:n.2982-3C>A