Canonical Allele Identifier: CA2194561731
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89328755G= , CM000677.2:g.89328755G= GRCh38
NC_000015.9:g.89871986G= , CM000677.1:g.89871986G= GRCh37
NC_000015.8:g.87672990G= NCBI36
NG_008218.1:g.11041C=
NG_008218.2:g.11041C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1100C= ENSP00000516154.1:p.Pro367=
ENST00000268124.11:c.1100C= MANE Select ENSP00000268124.5:p.Pro367=
ENST00000530292.3:c.701C= ENSP00000432885.2:p.Pro234=
ENST00000635986.2:c.1100C= ENSP00000490653.2:p.Pro367=
ENST00000636774.1:c.1100C= ENSP00000489799.1:p.Pro367=
ENST00000637264.1:c.172C=
ENST00000666746.1:c.757C=
ENST00000672071.1:n.1298C=
ENST00000672923.2:n.97C=
ENST00000268124.9:c.1100C= ENSP00000268124.5:p.Pro367=
ENST00000442287.6:c.1100C= ENSP00000399851.2:p.Pro367=
ENST00000631044.2:c.*483C= ENSP00000486730.1:n.*483C=
NM_001126131.1:c.1100C= NP_001119603.1:p.Pro367=
NM_002693.2:c.1100C= NP_002684.1:p.Pro367=
NM_001126131.2:c.1100C= NP_001119603.1:p.Pro367=
NM_002693.3:c.1100C= MANE Select NP_002684.1:p.Pro367=