Canonical Allele Identifier: CA393759352
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325606A>C , CM000677.2:g.89325606A>C GRCh38
NC_000015.9:g.89868837A>C , CM000677.1:g.89868837A>C GRCh37
NC_000015.8:g.87669841A>C NCBI36
NG_008218.1:g.14190T>G
NG_008218.2:g.14190T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1793T>G ENSP00000516154.1:p.Val598Gly
ENST00000268124.11:c.1793T>G MANE Select ENSP00000268124.5:p.Val598Gly
ENST00000530292.3:c.1394T>G ENSP00000432885.2:p.Val465Gly
ENST00000635986.2:c.1793T>G ENSP00000490653.2:p.Val598Gly
ENST00000636774.1:c.*360T>G ENSP00000489799.1:n.*360T>G
ENST00000637238.1:c.530T>G ENSP00000490756.1:p.Val177Gly
ENST00000637264.1:c.865T>G
ENST00000666746.1:c.1370T>G
ENST00000670281.1:c.113T>G ENSP00000499709.1:p.Val38Gly
ENST00000672071.1:n.1991T>G
ENST00000672923.2:n.1896T>G
ENST00000268124.9:c.1793T>G ENSP00000268124.5:p.Val598Gly
ENST00000442287.6:c.1793T>G ENSP00000399851.2:p.Val598Gly
ENST00000526314.2:c.175T>G
ENST00000631044.2:c.*1176T>G ENSP00000486730.1:n.*1176T>G
NM_001126131.1:c.1793T>G NP_001119603.1:p.Val598Gly
NM_002693.2:c.1793T>G NP_002684.1:p.Val598Gly
NM_001126131.2:c.1793T>G NP_001119603.1:p.Val598Gly
NM_002693.3:c.1793T>G MANE Select NP_002684.1:p.Val598Gly