Canonical Allele Identifier: CA393765785
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89329045G>C , CM000677.2:g.89329045G>C GRCh38
NC_000015.9:g.89872276G>C , CM000677.1:g.89872276G>C GRCh37
NC_000015.8:g.87673280G>C NCBI36
NG_008218.1:g.10751C>G
NG_008218.2:g.10751C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.921C>G ENSP00000516154.1:p.Phe307Leu
ENST00000268124.11:c.921C>G MANE Select ENSP00000268124.5:p.Phe307Leu
ENST00000530292.3:c.522C>G ENSP00000432885.2:p.Phe174Leu
ENST00000635986.2:c.921C>G ENSP00000490653.2:p.Phe307Leu
ENST00000636774.1:c.921C>G ENSP00000489799.1:p.Phe307Leu
ENST00000666746.1:c.578C>G
ENST00000672071.1:n.1119C>G
ENST00000268124.9:c.921C>G ENSP00000268124.5:p.Phe307Leu
ENST00000442287.6:c.921C>G ENSP00000399851.2:p.Phe307Leu
ENST00000631044.2:c.*304C>G ENSP00000486730.1:n.*304C>G
NM_001126131.1:c.921C>G NP_001119603.1:p.Phe307Leu
NM_002693.2:c.921C>G NP_002684.1:p.Phe307Leu
NM_001126131.2:c.921C>G NP_001119603.1:p.Phe307Leu
NM_002693.3:c.921C>G MANE Select NP_002684.1:p.Phe307Leu