Canonical Allele Identifier: CA393759214
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325541A>C , CM000677.2:g.89325541A>C GRCh38
NC_000015.9:g.89868772A>C , CM000677.1:g.89868772A>C GRCh37
NC_000015.8:g.87669776A>C NCBI36
NG_008218.1:g.14255T>G
NG_008218.2:g.14255T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.1858T>G ENSP00000516154.1:p.Trp620Gly
ENST00000268124.11:c.1858T>G MANE Select ENSP00000268124.5:p.Trp620Gly
ENST00000530292.3:c.1459T>G ENSP00000432885.2:p.Trp487Gly
ENST00000635986.2:c.1858T>G ENSP00000490653.2:p.Trp620Gly
ENST00000636774.1:c.*425T>G ENSP00000489799.1:n.*425T>G
ENST00000637238.1:c.595T>G ENSP00000490756.1:p.Trp199Gly
ENST00000637264.1:c.930T>G
ENST00000666746.1:c.1435T>G
ENST00000670281.1:c.178T>G ENSP00000499709.1:p.Trp60Gly
ENST00000672071.1:n.2056T>G
ENST00000672923.2:n.1961T>G
ENST00000268124.9:c.1858T>G ENSP00000268124.5:p.Trp620Gly
ENST00000442287.6:c.1858T>G ENSP00000399851.2:p.Trp620Gly
ENST00000526314.2:c.240T>G
ENST00000526398.1:c.47T>G
ENST00000532584.5:n.60T>G
ENST00000631044.2:c.*1241T>G ENSP00000486730.1:n.*1241T>G
NM_001126131.1:c.1858T>G NP_001119603.1:p.Trp620Gly
NM_002693.2:c.1858T>G NP_002684.1:p.Trp620Gly
NM_001126131.2:c.1858T>G NP_001119603.1:p.Trp620Gly
NM_002693.3:c.1858T>G MANE Select NP_002684.1:p.Trp620Gly