Canonical Allele Identifier: CA393759177
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325523C>A , CM000677.2:g.89325523C>A GRCh38
NC_000015.9:g.89868754C>A , CM000677.1:g.89868754C>A GRCh37
NC_000015.8:g.87669758C>A NCBI36
NG_008218.1:g.14273G>T
NG_008218.2:g.14273G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1876G>T ENSP00000516154.1:p.Gly626Trp
ENST00000268124.11:c.1876G>T MANE Select ENSP00000268124.5:p.Gly626Trp
ENST00000530292.3:c.1477G>T ENSP00000432885.2:p.Gly493Trp
ENST00000635986.2:c.1876G>T ENSP00000490653.2:p.Gly626Trp
ENST00000636774.1:c.*443G>T ENSP00000489799.1:n.*443G>T
ENST00000637238.1:c.613G>T ENSP00000490756.1:p.Gly205Trp
ENST00000637264.1:c.948G>T
ENST00000666746.1:c.1453G>T
ENST00000670281.1:c.196G>T ENSP00000499709.1:p.Gly66Trp
ENST00000672071.1:n.2074G>T
ENST00000672923.2:n.1979G>T
ENST00000268124.9:c.1876G>T ENSP00000268124.5:p.Gly626Trp
ENST00000442287.6:c.1876G>T ENSP00000399851.2:p.Gly626Trp
ENST00000526314.2:c.258G>T
ENST00000526398.1:c.65G>T
ENST00000532584.5:n.78G>T
ENST00000631044.2:c.*1259G>T ENSP00000486730.1:n.*1259G>T
NM_001126131.1:c.1876G>T NP_001119603.1:p.Gly626Trp
NM_002693.2:c.1876G>T NP_002684.1:p.Gly626Trp
NM_001126131.2:c.1876G>T NP_001119603.1:p.Gly626Trp
NM_002693.3:c.1876G>T MANE Select NP_002684.1:p.Gly626Trp