Canonical Allele Identifier: CA2194555024
Gene: POLG HGNC NCBI

Linked Data

dbSNP Id: rs2055425684

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323363A>G , CM000677.2:g.89323363A>G GRCh38
NC_000015.9:g.89866594A>G , CM000677.1:g.89866594A>G GRCh37
NC_000015.8:g.87667598A>G NCBI36
NG_008218.1:g.16433T>C
NG_008218.2:g.16433T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2265+41T>C ENSP00000516154.1:n.2265+41T>C
ENST00000268124.11:c.2265+41T>C MANE Select ENSP00000268124.5:n.2265+41T>C
ENST00000530292.3:c.1866+41T>C ENSP00000432885.2:n.1866+41T>C
ENST00000635986.2:c.2265+41T>C ENSP00000490653.2:n.2265+41T>C
ENST00000636774.1:c.*832+41T>C ENSP00000489799.1:n.*832+41T>C
ENST00000637238.1:c.962+41T>C ENSP00000490756.1:n.962+41T>C
ENST00000637264.1:c.1337+41T>C
ENST00000666746.1:c.1842+41T>C
ENST00000670281.1:c.585+41T>C ENSP00000499709.1:n.585+41T>C
ENST00000672071.1:n.2463+41T>C
ENST00000672923.2:n.2368+41T>C
ENST00000268124.9:c.2265+41T>C ENSP00000268124.5:n.2265+41T>C
ENST00000442287.6:c.2265+41T>C ENSP00000399851.2:n.2265+41T>C
ENST00000526314.2:c.539+452T>C
ENST00000526398.1:c.414+41T>C
ENST00000528881.2:c.34+41T>C
ENST00000530715.5:c.24+41T>C ENSP00000431395.1:n.24+41T>C
ENST00000532584.5:n.467+41T>C
ENST00000631044.2:c.*1689+41T>C ENSP00000486730.1:n.*1689+41T>C
NM_001126131.1:c.2265+41T>C NP_001119603.1:n.2265+41T>C
NM_002693.2:c.2265+41T>C NP_002684.1:n.2265+41T>C
NM_001126131.2:c.2265+41T>C NP_001119603.1:n.2265+41T>C
NM_002693.3:c.2265+41T>C MANE Select NP_002684.1:n.2265+41T>C