Canonical Allele Identifier: CA2194554626
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323190G= , CM000677.2:g.89323190G= GRCh38
NC_000015.9:g.89866421G= , CM000677.1:g.89866421G= GRCh37
NC_000015.8:g.87667425G= NCBI36
NG_008218.1:g.16606C=
NG_008218.2:g.16606C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2265+214C= ENSP00000516154.1:n.2265+214C=
ENST00000268124.11:c.2265+214C= MANE Select ENSP00000268124.5:n.2265+214C=
ENST00000530292.3:c.1866+214C= ENSP00000432885.2:n.1866+214C=
ENST00000635986.2:c.2265+214C= ENSP00000490653.2:n.2265+214C=
ENST00000636774.1:c.*832+214C= ENSP00000489799.1:n.*832+214C=
ENST00000637238.1:c.962+214C= ENSP00000490756.1:n.962+214C=
ENST00000637264.1:c.1337+214C=
ENST00000666746.1:c.1842+214C=
ENST00000670281.1:c.585+214C= ENSP00000499709.1:n.585+214C=
ENST00000672071.1:n.2463+214C=
ENST00000672923.2:n.2368+214C=
ENST00000268124.9:c.2265+214C= ENSP00000268124.5:n.2265+214C=
ENST00000442287.6:c.2265+214C= ENSP00000399851.2:n.2265+214C=
ENST00000526314.2:c.540-288C=
ENST00000526398.1:c.414+214C=
ENST00000528881.2:c.34+214C=
ENST00000530715.5:c.24+214C= ENSP00000431395.1:n.24+214C=
ENST00000532584.5:n.467+214C=
ENST00000631044.2:c.*1689+214C= ENSP00000486730.1:n.*1689+214C=
NM_001126131.1:c.2265+214C= NP_001119603.1:n.2265+214C=
NM_002693.2:c.2265+214C= NP_002684.1:n.2265+214C=
NM_001126131.2:c.2265+214C= NP_001119603.1:n.2265+214C=
NM_002693.3:c.2265+214C= MANE Select NP_002684.1:n.2265+214C=