Canonical Allele Identifier: CA2194549937
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325495G= , CM000677.2:g.89325495G= GRCh38
NC_000015.9:g.89868726G= , CM000677.1:g.89868726G= GRCh37
NC_000015.8:g.87669730G= NCBI36
NG_008218.1:g.14301C=
NG_008218.2:g.14301C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1904C= ENSP00000516154.1:p.Pro635=
ENST00000268124.11:c.1904C= MANE Select ENSP00000268124.5:p.Pro635=
ENST00000530292.3:c.1505C= ENSP00000432885.2:p.Pro502=
ENST00000635986.2:c.1904C= ENSP00000490653.2:p.Pro635=
ENST00000636774.1:c.*471C= ENSP00000489799.1:n.*471C=
ENST00000637238.1:c.641C= ENSP00000490756.1:p.Pro214=
ENST00000637264.1:c.976C=
ENST00000666746.1:c.1481C=
ENST00000670281.1:c.224C= ENSP00000499709.1:p.Pro75=
ENST00000672071.1:n.2102C=
ENST00000672923.2:n.2007C=
ENST00000268124.9:c.1904C= ENSP00000268124.5:p.Pro635=
ENST00000442287.6:c.1904C= ENSP00000399851.2:p.Pro635=
ENST00000526314.2:c.286C=
ENST00000526398.1:c.93C=
ENST00000532584.5:n.106C=
ENST00000631044.2:c.*1287C= ENSP00000486730.1:n.*1287C=
NM_001126131.1:c.1904C= NP_001119603.1:p.Pro635=
NM_002693.2:c.1904C= NP_002684.1:p.Pro635=
NM_001126131.2:c.1904C= NP_001119603.1:p.Pro635=
NM_002693.3:c.1904C= MANE Select NP_002684.1:p.Pro635=