Canonical Allele Identifier: CA2194551035
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321906G= , CM000677.2:g.89321906G= GRCh38
NC_000015.9:g.89865137G= , CM000677.1:g.89865137G= GRCh37
NC_000015.8:g.87666141G= NCBI36
NG_008218.1:g.17890C=
NG_008218.2:g.17890C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2481-53C= ENSP00000516154.1:n.2481-53C=
ENST00000268124.11:c.2481-53C= MANE Select ENSP00000268124.5:n.2481-53C=
ENST00000530292.3:c.2082-53C= ENSP00000432885.2:n.2082-53C=
ENST00000635986.2:c.2481-53C= ENSP00000490653.2:n.2481-53C=
ENST00000636774.1:c.*1048-53C= ENSP00000489799.1:n.*1048-53C=
ENST00000637238.1:c.1178-53C= ENSP00000490756.1:n.1178-53C=
ENST00000637264.1:c.1553-53C=
ENST00000666746.1:c.2058-53C=
ENST00000670281.1:c.800+56C= ENSP00000499709.1:n.800+56C=
ENST00000672071.1:n.2679-53C=
ENST00000672923.2:n.2423-53C=
ENST00000268124.9:c.2481-53C= ENSP00000268124.5:n.2481-53C=
ENST00000442287.6:c.2481-53C= ENSP00000399851.2:n.2481-53C=
ENST00000528881.2:c.196-646C=
ENST00000530715.5:c.185+836C= ENSP00000431395.1:n.185+836C=
ENST00000532584.5:n.577C=
ENST00000631044.2:c.*1905-53C= ENSP00000486730.1:n.*1905-53C=
NM_001126131.1:c.2481-53C= NP_001119603.1:n.2481-53C=
NM_002693.2:c.2481-53C= NP_002684.1:n.2481-53C=
NM_001126131.2:c.2481-53C= NP_001119603.1:n.2481-53C=
NM_002693.3:c.2481-53C= MANE Select NP_002684.1:n.2481-53C=