Canonical Allele Identifier: CA2194555005
Gene: POLG HGNC NCBI

Linked Data

dbSNP Id: rs2055425493

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323354T>G , CM000677.2:g.89323354T>G GRCh38
NC_000015.9:g.89866585T>G , CM000677.1:g.89866585T>G GRCh37
NC_000015.8:g.87667589T>G NCBI36
NG_008218.1:g.16442A>C
NG_008218.2:g.16442A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2265+50A>C ENSP00000516154.1:n.2265+50A>C
ENST00000268124.11:c.2265+50A>C MANE Select ENSP00000268124.5:n.2265+50A>C
ENST00000530292.3:c.1866+50A>C ENSP00000432885.2:n.1866+50A>C
ENST00000635986.2:c.2265+50A>C ENSP00000490653.2:n.2265+50A>C
ENST00000636774.1:c.*832+50A>C ENSP00000489799.1:n.*832+50A>C
ENST00000637238.1:c.962+50A>C ENSP00000490756.1:n.962+50A>C
ENST00000637264.1:c.1337+50A>C
ENST00000666746.1:c.1842+50A>C
ENST00000670281.1:c.585+50A>C ENSP00000499709.1:n.585+50A>C
ENST00000672071.1:n.2463+50A>C
ENST00000672923.2:n.2368+50A>C
ENST00000268124.9:c.2265+50A>C ENSP00000268124.5:n.2265+50A>C
ENST00000442287.6:c.2265+50A>C ENSP00000399851.2:n.2265+50A>C
ENST00000526314.2:c.540-452A>C
ENST00000526398.1:c.414+50A>C
ENST00000528881.2:c.34+50A>C
ENST00000530715.5:c.24+50A>C ENSP00000431395.1:n.24+50A>C
ENST00000532584.5:n.467+50A>C
ENST00000631044.2:c.*1689+50A>C ENSP00000486730.1:n.*1689+50A>C
NM_001126131.1:c.2265+50A>C NP_001119603.1:n.2265+50A>C
NM_002693.2:c.2265+50A>C NP_002684.1:n.2265+50A>C
NM_001126131.2:c.2265+50A>C NP_001119603.1:n.2265+50A>C
NM_002693.3:c.2265+50A>C MANE Select NP_002684.1:n.2265+50A>C