Canonical Allele Identifier: CA2499223133
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 1126010
ClinVar RCV Id: RCV001457929
dbSNP Id: rs2152059869

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89319360G>A , CM000677.2:g.89319360G>A GRCh38
NC_000015.9:g.89862591G>A , CM000677.1:g.89862591G>A GRCh37
NC_000015.8:g.87663595G>A NCBI36
NG_008218.1:g.20436C>T
NG_008218.2:g.20436C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2982-10C>T ENSP00000516154.1:n.2982-10C>T
ENST00000268124.11:c.2982-10C>T MANE Select ENSP00000268124.5:n.2982-10C>T
ENST00000530292.3:c.2583-10C>T ENSP00000432885.2:n.2583-10C>T
ENST00000635986.2:c.*42C>T ENSP00000490653.2:n.*42C>T
ENST00000636530.1:n.20C>T
ENST00000636774.1:c.*1549-10C>T ENSP00000489799.1:n.*1549-10C>T
ENST00000636812.1:c.78C>T
ENST00000637238.1:c.1791-10C>T ENSP00000490756.1:n.1791-10C>T
ENST00000637264.1:c.2054-10C>T
ENST00000666746.1:c.2559-10C>T
ENST00000670281.1:c.801-10C>T ENSP00000499709.1:n.801-10C>T
ENST00000672071.1:n.3180-10C>T
ENST00000672695.1:n.159-10C>T
ENST00000672923.2:n.2972C>T
ENST00000268124.9:c.2982-10C>T ENSP00000268124.5:n.2982-10C>T
ENST00000442287.6:c.2982-10C>T ENSP00000399851.2:n.2982-10C>T
ENST00000530292.2:c.66-10C>T ENSP00000432885.1:n.66-10C>T
ENST00000530715.5:c.290-10C>T ENSP00000431395.1:n.290-10C>T
ENST00000631044.2:c.*2406-10C>T ENSP00000486730.1:n.*2406-10C>T
NM_001126131.1:c.2982-10C>T NP_001119603.1:n.2982-10C>T
NM_002693.2:c.2982-10C>T NP_002684.1:n.2982-10C>T
NM_001126131.2:c.2982-10C>T NP_001119603.1:n.2982-10C>T
NM_002693.3:c.2982-10C>T MANE Select NP_002684.1:n.2982-10C>T