Canonical Allele Identifier: CA2194550996
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321901C= , CM000677.2:g.89321901C= GRCh38
NC_000015.9:g.89865132C= , CM000677.1:g.89865132C= GRCh37
NC_000015.8:g.87666136C= NCBI36
NG_008218.1:g.17895G=
NG_008218.2:g.17895G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2481-48G= ENSP00000516154.1:n.2481-48G=
ENST00000268124.11:c.2481-48G= MANE Select ENSP00000268124.5:n.2481-48G=
ENST00000530292.3:c.2082-48G= ENSP00000432885.2:n.2082-48G=
ENST00000635986.2:c.2481-48G= ENSP00000490653.2:n.2481-48G=
ENST00000636774.1:c.*1048-48G= ENSP00000489799.1:n.*1048-48G=
ENST00000637238.1:c.1178-48G= ENSP00000490756.1:n.1178-48G=
ENST00000637264.1:c.1553-48G=
ENST00000666746.1:c.2058-48G=
ENST00000670281.1:c.800+61G= ENSP00000499709.1:n.800+61G=
ENST00000672071.1:n.2679-48G=
ENST00000672923.2:n.2423-48G=
ENST00000268124.9:c.2481-48G= ENSP00000268124.5:n.2481-48G=
ENST00000442287.6:c.2481-48G= ENSP00000399851.2:n.2481-48G=
ENST00000528881.2:c.196-641G=
ENST00000530715.5:c.185+841G= ENSP00000431395.1:n.185+841G=
ENST00000532584.5:n.582G=
ENST00000631044.2:c.*1905-48G= ENSP00000486730.1:n.*1905-48G=
NM_001126131.1:c.2481-48G= NP_001119603.1:n.2481-48G=
NM_002693.2:c.2481-48G= NP_002684.1:n.2481-48G=
NM_001126131.2:c.2481-48G= NP_001119603.1:n.2481-48G=
NM_002693.3:c.2481-48G= MANE Select NP_002684.1:n.2481-48G=