Canonical Allele Identifier: CA2194550007
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321623A= , CM000677.2:g.89321623A= GRCh38
NC_000015.9:g.89864854A= , CM000677.1:g.89864854A= GRCh37
NC_000015.8:g.87665858A= NCBI36
NG_008218.1:g.18173T=
NG_008218.2:g.18173T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2598+113T= ENSP00000516154.1:n.2598+113T=
ENST00000268124.11:c.2598+113T= MANE Select ENSP00000268124.5:n.2598+113T=
ENST00000530292.3:c.2199+113T= ENSP00000432885.2:n.2199+113T=
ENST00000635986.2:c.2598+113T= ENSP00000490653.2:n.2598+113T=
ENST00000636774.1:c.*1165+113T= ENSP00000489799.1:n.*1165+113T=
ENST00000637238.1:c.1295+113T= ENSP00000490756.1:n.1295+113T=
ENST00000637264.1:c.1670+113T=
ENST00000666746.1:c.2175+113T=
ENST00000670281.1:c.800+339T= ENSP00000499709.1:n.800+339T=
ENST00000672071.1:n.2796+113T=
ENST00000672923.2:n.2540+113T=
ENST00000268124.9:c.2598+113T= ENSP00000268124.5:n.2598+113T=
ENST00000442287.6:c.2598+113T= ENSP00000399851.2:n.2598+113T=
ENST00000528881.2:c.196-363T=
ENST00000530715.5:c.186-754T= ENSP00000431395.1:n.186-754T=
ENST00000631044.2:c.*2022+113T= ENSP00000486730.1:n.*2022+113T=
NM_001126131.1:c.2598+113T= NP_001119603.1:n.2598+113T=
NM_002693.2:c.2598+113T= NP_002684.1:n.2598+113T=
NM_001126131.2:c.2598+113T= NP_001119603.1:n.2598+113T=
NM_002693.3:c.2598+113T= MANE Select NP_002684.1:n.2598+113T=